Peter White

Contact Information

Call us at: (614) 355-2671

Fax us at: (614) 355-8633

Institute for Genomic MedicineThe Research Institute at Nationwide Children’s Hospital575 Children’s CrossroadsColumbus, OH 43205 (map)

Learn more about Peter White

Biography

Peter White, PhD, is a genomics scientist and innovator, driven to create a future where no child with genetic disease goes undiagnosed and every child with cancer receives optimal treatment based upon their personal genome sequence. He currently has the position of Senior Director in The Institute for Genomic Medicine at Nationwide Children’s Hospital, one of America’s largest not-for-profit freestanding pediatric health care systems. He also has the appointment of tenured Associate Professor of Pediatrics in the School of Medicine at The Ohio State University. He directs the Computational Genomics Group, leading a team of 30 high performing bioinformatics scientists, data scientists, software engineers and developers. He has substantial expertise in cloud computing and its applications in a combined healthcare and research setting. Leveraging the flexibility of the cloud, his group develops highly optimized solutions to address the substantial processing, networking and big data challenges arising from genomic science. Peter’s research program focuses on rapidly analyzing and interpret genomic data sets, utilizing disruptive cloud computing technologies to aid variant discovery, data warehousing and machine learning. He is principal investigator of Nationwide Children’s rare disease genomics program that is discovering novel genetic etiologies in patients with rare or as yet to be diagnosed genetic disease. Additionally, through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, epilepsy, autism spectrum disorders, pediatric cancer and hematologic disorders. As developer and inventor of the balanced parallelization strategy for human genome analysis (named “Churchill”), Dr. White was founded GenomeNext LLC, a company providing Software as a Service for genomics applications. Peter received his PhD in Molecular Biology from the University of Cambridge, England and completed his postdoctoral training in the Department of Genetics at The University of Pennsylvania, Philadelphia. He has over 20 years of experience in the field of genomics and computational biology, is the recipient of multiple awards from the National Institutes of Health and has authored over 80 peer reviewed publications with over 14,000 citations.

See Peter White’s Curriculum Vitae (CV)

Academic and Clinical Areas

Molecular Bioinformatics

Director

Biomedical Genomics Core

Director

Primary Department

Institute for Genomic Medicine

Awards, Honors & Organizations

Top 20 Healthcare Professionals, Columbus Business First, 2017 Team of the Year, Nationwide Children’s Hospital, 2017 The CLARITY Undiagnosed Challenege (1st Place), 2015 Faculty Achievement Award, Ohio State College of Medicine, 2015 The INTEL Head in the Clouds Challenge on AWS POC, 2014 The CLARITY Challenge (Finalist), 2013 Member, International Society for Computational Biology (ISCB), 2011 - Present Member, American Society of Human Genetics (ASHG), 2010 - Present Member, Association of Biomolecular Resource Facilities (ABRF), 2009 - Present Member, International Society for Developmental Origins of Health and Disease, 2009 - 2011 Member, Beta Cell Biology Consortium (BCBC), 2003 - 2008

Research

Peter’s research program focuses on rapidly analyzing and interpret genomic data sets, utilizing disruptive cloud computing technologies to aid variant discovery, data warehousing and machine learning. He is principal investigator of Nationwide Children’s rare disease genomics program that is discovering novel genetic etiologies in patients with rare or as yet to be diagnosed genetic disease. Additionally, through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, epilepsy, autism spectrum disorders, pediatric cancer and hematologic disorders. Through whole genome sequencing and implementation of novel computational methods, his group is developing approaches to identify pathogenic variants that do not directly impact the protein coding sequence, such as intronic or synonymous variants, and structural variants that are not possible to detect with traditional molecular methods.

View My Publications

Publications

                  Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5: 

                


                  Locke LW, Crouser ED, White P, Julian MW, Guirado Caceres E, Papp AC, Le VT, Sadee W, Schlesinger LS. IL-13-regulated Macrophage Polarization during Granuloma Formation in an In Vitro Human Sarcoidosis Model. Am J Respir Cell Mol Biol. 2018 Aug 22;  

                


                  Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P. A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. Cold Spring Harb Mol Case Stud. 2018 Jun; 4: 

                


                  Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Mol Psychiatry. 2018 May 4;  

                


                  Miller KE, Kelly B, Fitch J, Ross N, Avenarius MR, Varga E, Koboldt DC, Boué DR, Magrini V, Coven SL, Finlay JL, Cottrell CE, White P, Gastier-Foster JM, Wilson RK, Leonard J, Mardis ER. Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma. Cold Spring Harb Mol Case Stud. 2018 Apr; 4: 

                


                  Tsutiya A, Nakano Y, Hansen-Kiss E, Kelly B, Nishihara M, Goshima Y, Corsmeier D, White P, Herman GE, Ohtani-Kaneko R. Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism. Sci Rep. 2017 Dec 1; 7: 16812.

                


                  Crouser ED, White P, Caceres EG, Julian MW, Papp AC, Locke LW, Sadee W, Schlesinger LS. A Novel In Vitro Human Granuloma Model of Sarcoidosis and Latent Tuberculosis Infection. Am J Respir Cell Mol Biol. 2017 Oct; 57: 487-498.

                


                  Guess AJ, Daneault B, Wang R, Bradbury H, La Perle KMD, Fitch J, Hedrick SL, Hamelberg E, Astbury C, White P, Overolt K, Rangarajan H, Abu-Arja R, Devine SM, Otsuru S, Dominici M, O'Donnell L, Horwitz EM. Safety Profile of Good Manufacturing Practice Manufactured Interferon ?-Primed Mesenchymal Stem/Stromal Cells for Clinical Trials. Stem Cells Transl Med. 2017 Oct; 6: 1868-1879.

                


                  Zygmunt DA, Singhal N, Kim ML, Cramer ML, Crowe KE, Xu R, Jia Y, Adair J, Martinez-Pena Y Valenzuela I, Akaaboune M, White P, Janssen PM, Martin PT. Deletion of Pofut1 in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in cis and in trans. Mol Cell Biol. 2017 May 15; 37: 

                


                  Hoang KV, Adcox HE, Fitch JR, Gordon DM, Curry HM, Schlesinger LS, White P, Gunn JS. AR-13, a Celecoxib Derivative, Directly Kills Francisella In Vitro and Aids Clearance and Mouse Survival In Vivo. Front Microbiol. 2017; 8: 1695.

                


                  Sotos J, Miller K, Corsmeier D, Tokar N, Kelly B, Nadella V, Zhong H, Wetzel A, Adler B, Yu CY, White P. A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia. Int J Pediatr Endocrinol. 2017; 2017: 12.

                


                  Lintner KE, Patwardhan A, Rider LG, Abdul-Aziz R, Wu YL, Lundström E, Padyukov L, Zhou B, Alhomosh A, Newsom D, White P, Jones KB, O'Hanlon TP, Miller FW, Spencer CH, Yu CY. Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis. Ann Rheum Dis. 2016 Sep; 75: 1599-606.

                


                  Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D'Alessandro LC, Morris SA, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Popoola M, Wadhwa L, Brook JD, Bu'Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet. 2016 Jun 1; 25: 2331-2341.

                


                  Cancer Genome Atlas Network.. Genomic Classification of Cutaneous Melanoma. Cell. 2015 Jun 18; 161: 1681-96.

                


                  Duncan FJ, Naughton BJ, Zaraspe K, Murrey DA, Meadows AS, Clark KR, Newsom DE, White P, Fu H, McCarty DM. Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice. Mol Ther. 2015 Apr; 23: 638-47.

                


                  Naughton BJ, Duncan FJ, Murrey DA, Meadows AS, Newsom DE, Stoicea N, White P, Scharre DW, Mccarty DM, Fu H. Blood genome-wide transcriptional profiles reflect broad molecular impairments and strong blood-brain links in Alzheimer's disease. J Alzheimers Dis. 2015; 43: 93-108.

                


                  Kelly BJ, Fitch JR, Hu Y, Corsmeier DJ, Zhong H, Wetzel AN, Nordquist RD, Newsom DL, White P. Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics. Genome Biol. 2015 Jan 20; 16: 6.

                


                  Bonachea EM, Zender G, White P, Corsmeier D, Newsom D, Fitzgerald-Butt S, Garg V, McBride KL. Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve. BMC Med Genomics. 2014 Sep 26; 7: 56.

                


                  Elgamal S, Katz A, Hersch SJ, Newsom D, White P, Navarre WW, Ibba M. EF-P dependent pauses integrate proximal and distal signals during translation. PLoS Genet. 2014 Aug; 10: e1004553.

                


                  Ali MM, Newsom DL, González JF, Sabag-Daigle A, Stahl C, Steidley B, Dubena J, Dyszel JL, Smith JN, Dieye Y, Arsenescu R, Boyaka PN, Krakowka S, Romeo T, Behrman EJ, White P, Ahmer BM. Fructose-asparagine is a primary nutrient during growth of Salmonella in the inflamed intestine. PLoS Pathog. 2014 Jun; 10: e1004209.

                


                  Jones CJ, Newsom D, Kelly B, Irie Y, Jennings LK, Xu B, Limoli DH, Harrison JJ, Parsek MR, White P, Wozniak DJ. ChIP-Seq and RNA-Seq reveal an AmrZ-mediated mechanism for cyclic di-GMP synthesis and biofilm development by Pseudomonas aeruginosa. PLoS Pathog. 2014 Mar; 10: e1003984.

                


                  Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzynski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrecic L, Palandacic A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15: R53.

                


                  Santana EA, Harrison A, Zhang X, Baker BD, Kelly BJ, White P, Liu Y, Munson RS Jr. HrrF is the Fur-regulated small RNA in nontypeable Haemophilus influenzae. PLoS One. 2014; 9: e105644.

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Education

Graduate School

University of Cambridge

Date Completed: 06/30/1998

Undergraduate School

Brunel University

Date Completed: 06/30/1994

Clinical Interests

Congenital Heart Disease Rare Genetic Disease

Professional Experience

2016 - Present Nationwide Children’s Hospital, Senior Director, Computational Genomics Group, IGM2016 - Present Nationwide Children’s Hospital Institute for Genomic Medicine - Computational Genomics Group, Senior Director2014 - Present GenomeNext LLC, Chief Scientific Officer2008 - Present The Research Institute at Nationwide Children’s Hospital, Principal Investigator

Contact Information

Institute for Genomic Medicine

Call us at: (614) 355-2671

Fax us at: (614) 355-8633

                    The Research Institute at Nationwide Children's Hospital575 Children's CrossroadsColumbus, OH 43205 (map)

Contact Information

Call us at: (614) 355-2671

Fax us at: (614) 355-8633

Institute for Genomic MedicineThe Research Institute at Nationwide Children’s Hospital575 Children’s CrossroadsColumbus, OH 43205 (map)

Learn more about Peter White

Biography

Peter White, PhD, is a genomics scientist and innovator, driven to create a future where no child with genetic disease goes undiagnosed and every child with cancer receives optimal treatment based upon their personal genome sequence. He currently has the position of Senior Director in The Institute for Genomic Medicine at Nationwide Children’s Hospital, one of America’s largest not-for-profit freestanding pediatric health care systems. He also has the appointment of tenured Associate Professor of Pediatrics in the School of Medicine at The Ohio State University. He directs the Computational Genomics Group, leading a team of 30 high performing bioinformatics scientists, data scientists, software engineers and developers. He has substantial expertise in cloud computing and its applications in a combined healthcare and research setting. Leveraging the flexibility of the cloud, his group develops highly optimized solutions to address the substantial processing, networking and big data challenges arising from genomic science. Peter’s research program focuses on rapidly analyzing and interpret genomic data sets, utilizing disruptive cloud computing technologies to aid variant discovery, data warehousing and machine learning. He is principal investigator of Nationwide Children’s rare disease genomics program that is discovering novel genetic etiologies in patients with rare or as yet to be diagnosed genetic disease. Additionally, through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, epilepsy, autism spectrum disorders, pediatric cancer and hematologic disorders. As developer and inventor of the balanced parallelization strategy for human genome analysis (named “Churchill”), Dr. White was founded GenomeNext LLC, a company providing Software as a Service for genomics applications. Peter received his PhD in Molecular Biology from the University of Cambridge, England and completed his postdoctoral training in the Department of Genetics at The University of Pennsylvania, Philadelphia. He has over 20 years of experience in the field of genomics and computational biology, is the recipient of multiple awards from the National Institutes of Health and has authored over 80 peer reviewed publications with over 14,000 citations.

See Peter White’s Curriculum Vitae (CV)

Academic and Clinical Areas

Molecular Bioinformatics

Director

Biomedical Genomics Core

Director

Primary Department

Institute for Genomic Medicine

Awards, Honors & Organizations

Top 20 Healthcare Professionals, Columbus Business First, 2017 Team of the Year, Nationwide Children’s Hospital, 2017 The CLARITY Undiagnosed Challenege (1st Place), 2015 Faculty Achievement Award, Ohio State College of Medicine, 2015 The INTEL Head in the Clouds Challenge on AWS POC, 2014 The CLARITY Challenge (Finalist), 2013 Member, International Society for Computational Biology (ISCB), 2011 - Present Member, American Society of Human Genetics (ASHG), 2010 - Present Member, Association of Biomolecular Resource Facilities (ABRF), 2009 - Present Member, International Society for Developmental Origins of Health and Disease, 2009 - 2011 Member, Beta Cell Biology Consortium (BCBC), 2003 - 2008

Research

Peter’s research program focuses on rapidly analyzing and interpret genomic data sets, utilizing disruptive cloud computing technologies to aid variant discovery, data warehousing and machine learning. He is principal investigator of Nationwide Children’s rare disease genomics program that is discovering novel genetic etiologies in patients with rare or as yet to be diagnosed genetic disease. Additionally, through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, epilepsy, autism spectrum disorders, pediatric cancer and hematologic disorders. Through whole genome sequencing and implementation of novel computational methods, his group is developing approaches to identify pathogenic variants that do not directly impact the protein coding sequence, such as intronic or synonymous variants, and structural variants that are not possible to detect with traditional molecular methods.

View My Publications

Publications

                  Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5: 

                


                  Locke LW, Crouser ED, White P, Julian MW, Guirado Caceres E, Papp AC, Le VT, Sadee W, Schlesinger LS. IL-13-regulated Macrophage Polarization during Granuloma Formation in an In Vitro Human Sarcoidosis Model. Am J Respir Cell Mol Biol. 2018 Aug 22;  

                


                  Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P. A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. Cold Spring Harb Mol Case Stud. 2018 Jun; 4: 

                


                  Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Mol Psychiatry. 2018 May 4;  

                


                  Miller KE, Kelly B, Fitch J, Ross N, Avenarius MR, Varga E, Koboldt DC, Boué DR, Magrini V, Coven SL, Finlay JL, Cottrell CE, White P, Gastier-Foster JM, Wilson RK, Leonard J, Mardis ER. Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma. Cold Spring Harb Mol Case Stud. 2018 Apr; 4: 

                


                  Tsutiya A, Nakano Y, Hansen-Kiss E, Kelly B, Nishihara M, Goshima Y, Corsmeier D, White P, Herman GE, Ohtani-Kaneko R. Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism. Sci Rep. 2017 Dec 1; 7: 16812.

                


                  Crouser ED, White P, Caceres EG, Julian MW, Papp AC, Locke LW, Sadee W, Schlesinger LS. A Novel In Vitro Human Granuloma Model of Sarcoidosis and Latent Tuberculosis Infection. Am J Respir Cell Mol Biol. 2017 Oct; 57: 487-498.

                


                  Guess AJ, Daneault B, Wang R, Bradbury H, La Perle KMD, Fitch J, Hedrick SL, Hamelberg E, Astbury C, White P, Overolt K, Rangarajan H, Abu-Arja R, Devine SM, Otsuru S, Dominici M, O'Donnell L, Horwitz EM. Safety Profile of Good Manufacturing Practice Manufactured Interferon ?-Primed Mesenchymal Stem/Stromal Cells for Clinical Trials. Stem Cells Transl Med. 2017 Oct; 6: 1868-1879.

                


                  Zygmunt DA, Singhal N, Kim ML, Cramer ML, Crowe KE, Xu R, Jia Y, Adair J, Martinez-Pena Y Valenzuela I, Akaaboune M, White P, Janssen PM, Martin PT. Deletion of Pofut1 in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in cis and in trans. Mol Cell Biol. 2017 May 15; 37: 

                


                  Hoang KV, Adcox HE, Fitch JR, Gordon DM, Curry HM, Schlesinger LS, White P, Gunn JS. AR-13, a Celecoxib Derivative, Directly Kills Francisella In Vitro and Aids Clearance and Mouse Survival In Vivo. Front Microbiol. 2017; 8: 1695.

                


                  Sotos J, Miller K, Corsmeier D, Tokar N, Kelly B, Nadella V, Zhong H, Wetzel A, Adler B, Yu CY, White P. A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia. Int J Pediatr Endocrinol. 2017; 2017: 12.

                


                  Lintner KE, Patwardhan A, Rider LG, Abdul-Aziz R, Wu YL, Lundström E, Padyukov L, Zhou B, Alhomosh A, Newsom D, White P, Jones KB, O'Hanlon TP, Miller FW, Spencer CH, Yu CY. Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis. Ann Rheum Dis. 2016 Sep; 75: 1599-606.

                


                  Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D'Alessandro LC, Morris SA, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Popoola M, Wadhwa L, Brook JD, Bu'Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet. 2016 Jun 1; 25: 2331-2341.

                


                  Cancer Genome Atlas Network.. Genomic Classification of Cutaneous Melanoma. Cell. 2015 Jun 18; 161: 1681-96.

                


                  Duncan FJ, Naughton BJ, Zaraspe K, Murrey DA, Meadows AS, Clark KR, Newsom DE, White P, Fu H, McCarty DM. Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice. Mol Ther. 2015 Apr; 23: 638-47.

                


                  Naughton BJ, Duncan FJ, Murrey DA, Meadows AS, Newsom DE, Stoicea N, White P, Scharre DW, Mccarty DM, Fu H. Blood genome-wide transcriptional profiles reflect broad molecular impairments and strong blood-brain links in Alzheimer's disease. J Alzheimers Dis. 2015; 43: 93-108.

                


                  Kelly BJ, Fitch JR, Hu Y, Corsmeier DJ, Zhong H, Wetzel AN, Nordquist RD, Newsom DL, White P. Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics. Genome Biol. 2015 Jan 20; 16: 6.

                


                  Bonachea EM, Zender G, White P, Corsmeier D, Newsom D, Fitzgerald-Butt S, Garg V, McBride KL. Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve. BMC Med Genomics. 2014 Sep 26; 7: 56.

                


                  Elgamal S, Katz A, Hersch SJ, Newsom D, White P, Navarre WW, Ibba M. EF-P dependent pauses integrate proximal and distal signals during translation. PLoS Genet. 2014 Aug; 10: e1004553.

                


                  Ali MM, Newsom DL, González JF, Sabag-Daigle A, Stahl C, Steidley B, Dubena J, Dyszel JL, Smith JN, Dieye Y, Arsenescu R, Boyaka PN, Krakowka S, Romeo T, Behrman EJ, White P, Ahmer BM. Fructose-asparagine is a primary nutrient during growth of Salmonella in the inflamed intestine. PLoS Pathog. 2014 Jun; 10: e1004209.

                


                  Jones CJ, Newsom D, Kelly B, Irie Y, Jennings LK, Xu B, Limoli DH, Harrison JJ, Parsek MR, White P, Wozniak DJ. ChIP-Seq and RNA-Seq reveal an AmrZ-mediated mechanism for cyclic di-GMP synthesis and biofilm development by Pseudomonas aeruginosa. PLoS Pathog. 2014 Mar; 10: e1003984.

                


                  Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzynski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrecic L, Palandacic A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15: R53.

                


                  Santana EA, Harrison A, Zhang X, Baker BD, Kelly BJ, White P, Liu Y, Munson RS Jr. HrrF is the Fur-regulated small RNA in nontypeable Haemophilus influenzae. PLoS One. 2014; 9: e105644.

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Education

Graduate School

University of Cambridge

Date Completed: 06/30/1998

Undergraduate School

Brunel University

Date Completed: 06/30/1994

Clinical Interests

Congenital Heart Disease Rare Genetic Disease

Professional Experience

2016 - Present Nationwide Children’s Hospital, Senior Director, Computational Genomics Group, IGM2016 - Present Nationwide Children’s Hospital Institute for Genomic Medicine - Computational Genomics Group, Senior Director2014 - Present GenomeNext LLC, Chief Scientific Officer2008 - Present The Research Institute at Nationwide Children’s Hospital, Principal Investigator

Contact Information

Institute for Genomic Medicine

Call us at: (614) 355-2671

Fax us at: (614) 355-8633

                    The Research Institute at Nationwide Children's Hospital575 Children's CrossroadsColumbus, OH 43205 (map)

Contact Information

Call us at: (614) 355-2671

Fax us at: (614) 355-8633

Institute for Genomic MedicineThe Research Institute at Nationwide Children’s Hospital575 Children’s CrossroadsColumbus, OH 43205 (map)

Learn more about Peter White

Contact Information

• Call us at:
• (614) 355-2671
• Fax us at:
• (614) 355-8633
• Institute for Genomic MedicineThe Research Institute at Nationwide Children’s Hospital575 Children’s CrossroadsColumbus, OH 43205 (map)

Learn more about Peter White

Biography

Peter White, PhD, is a genomics scientist and innovator, driven to create a future where no child with genetic disease goes undiagnosed and every child with cancer receives optimal treatment based upon their personal genome sequence. He currently has the position of Senior Director in The Institute for Genomic Medicine at Nationwide Children’s Hospital, one of America’s largest not-for-profit freestanding pediatric health care systems. He also has the appointment of tenured Associate Professor of Pediatrics in the School of Medicine at The Ohio State University. He directs the Computational Genomics Group, leading a team of 30 high performing bioinformatics scientists, data scientists, software engineers and developers. He has substantial expertise in cloud computing and its applications in a combined healthcare and research setting. Leveraging the flexibility of the cloud, his group develops highly optimized solutions to address the substantial processing, networking and big data challenges arising from genomic science. Peter’s research program focuses on rapidly analyzing and interpret genomic data sets, utilizing disruptive cloud computing technologies to aid variant discovery, data warehousing and machine learning. He is principal investigator of Nationwide Children’s rare disease genomics program that is discovering novel genetic etiologies in patients with rare or as yet to be diagnosed genetic disease. Additionally, through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, epilepsy, autism spectrum disorders, pediatric cancer and hematologic disorders. As developer and inventor of the balanced parallelization strategy for human genome analysis (named “Churchill”), Dr. White was founded GenomeNext LLC, a company providing Software as a Service for genomics applications. Peter received his PhD in Molecular Biology from the University of Cambridge, England and completed his postdoctoral training in the Department of Genetics at The University of Pennsylvania, Philadelphia. He has over 20 years of experience in the field of genomics and computational biology, is the recipient of multiple awards from the National Institutes of Health and has authored over 80 peer reviewed publications with over 14,000 citations.

See Peter White’s Curriculum Vitae (CV)

Biography

Peter White, PhD, is a genomics scientist and innovator, driven to create a future where no child with genetic disease goes undiagnosed and every child with cancer receives optimal treatment based upon their personal genome sequence. He currently has the position of Senior Director in The Institute for Genomic Medicine at Nationwide Children’s Hospital, one of America’s largest not-for-profit freestanding pediatric health care systems. He also has the appointment of tenured Associate Professor of Pediatrics in the School of Medicine at The Ohio State University. He directs the Computational Genomics Group, leading a team of 30 high performing bioinformatics scientists, data scientists, software engineers and developers. He has substantial expertise in cloud computing and its applications in a combined healthcare and research setting. Leveraging the flexibility of the cloud, his group develops highly optimized solutions to address the substantial processing, networking and big data challenges arising from genomic science. Peter’s research program focuses on rapidly analyzing and interpret genomic data sets, utilizing disruptive cloud computing technologies to aid variant discovery, data warehousing and machine learning. He is principal investigator of Nationwide Children’s rare disease genomics program that is discovering novel genetic etiologies in patients with rare or as yet to be diagnosed genetic disease. Additionally, through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, epilepsy, autism spectrum disorders, pediatric cancer and hematologic disorders. As developer and inventor of the balanced parallelization strategy for human genome analysis (named “Churchill”), Dr. White was founded GenomeNext LLC, a company providing Software as a Service for genomics applications. Peter received his PhD in Molecular Biology from the University of Cambridge, England and completed his postdoctoral training in the Department of Genetics at The University of Pennsylvania, Philadelphia. He has over 20 years of experience in the field of genomics and computational biology, is the recipient of multiple awards from the National Institutes of Health and has authored over 80 peer reviewed publications with over 14,000 citations.

See Peter White’s Curriculum Vitae (CV)

Biography

Peter White, PhD, is a genomics scientist and innovator, driven to create a future where no child with genetic disease goes undiagnosed and every child with cancer receives optimal treatment based upon their personal genome sequence. He currently has the position of Senior Director in The Institute for Genomic Medicine at Nationwide Children’s Hospital, one of America’s largest not-for-profit freestanding pediatric health care systems. He also has the appointment of tenured Associate Professor of Pediatrics in the School of Medicine at The Ohio State University. He directs the Computational Genomics Group, leading a team of 30 high performing bioinformatics scientists, data scientists, software engineers and developers. He has substantial expertise in cloud computing and its applications in a combined healthcare and research setting. Leveraging the flexibility of the cloud, his group develops highly optimized solutions to address the substantial processing, networking and big data challenges arising from genomic science. Peter’s research program focuses on rapidly analyzing and interpret genomic data sets, utilizing disruptive cloud computing technologies to aid variant discovery, data warehousing and machine learning. He is principal investigator of Nationwide Children’s rare disease genomics program that is discovering novel genetic etiologies in patients with rare or as yet to be diagnosed genetic disease. Additionally, through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, epilepsy, autism spectrum disorders, pediatric cancer and hematologic disorders. As developer and inventor of the balanced parallelization strategy for human genome analysis (named “Churchill”), Dr. White was founded GenomeNext LLC, a company providing Software as a Service for genomics applications. Peter received his PhD in Molecular Biology from the University of Cambridge, England and completed his postdoctoral training in the Department of Genetics at The University of Pennsylvania, Philadelphia. He has over 20 years of experience in the field of genomics and computational biology, is the recipient of multiple awards from the National Institutes of Health and has authored over 80 peer reviewed publications with over 14,000 citations.

See Peter White’s Curriculum Vitae (CV)

Peter White, PhD, is a genomics scientist and innovator, driven to create a future where no child with genetic disease goes undiagnosed and every child with cancer receives optimal treatment based upon their personal genome sequence. He currently has the position of Senior Director in The Institute for Genomic Medicine at Nationwide Children’s Hospital, one of America’s largest not-for-profit freestanding pediatric health care systems. He also has the appointment of tenured Associate Professor of Pediatrics in the School of Medicine at The Ohio State University. He directs the Computational Genomics Group, leading a team of 30 high performing bioinformatics scientists, data scientists, software engineers and developers. He has substantial expertise in cloud computing and its applications in a combined healthcare and research setting. Leveraging the flexibility of the cloud, his group develops highly optimized solutions to address the substantial processing, networking and big data challenges arising from genomic science. Peter’s research program focuses on rapidly analyzing and interpret genomic data sets, utilizing disruptive cloud computing technologies to aid variant discovery, data warehousing and machine learning. He is principal investigator of Nationwide Children’s rare disease genomics program that is discovering novel genetic etiologies in patients with rare or as yet to be diagnosed genetic disease. Additionally, through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, epilepsy, autism spectrum disorders, pediatric cancer and hematologic disorders. As developer and inventor of the balanced parallelization strategy for human genome analysis (named “Churchill”), Dr. White was founded GenomeNext LLC, a company providing Software as a Service for genomics applications. Peter received his PhD in Molecular Biology from the University of Cambridge, England and completed his postdoctoral training in the Department of Genetics at The University of Pennsylvania, Philadelphia. He has over 20 years of experience in the field of genomics and computational biology, is the recipient of multiple awards from the National Institutes of Health and has authored over 80 peer reviewed publications with over 14,000 citations.

See Peter White’s Curriculum Vitae (CV)

Peter White, PhD, is a genomics scientist and innovator, driven to create a future where no child with genetic disease goes undiagnosed and every child with cancer receives optimal treatment based upon their personal genome sequence. He currently has the position of Senior Director in The Institute for Genomic Medicine at Nationwide Children’s Hospital, one of America’s largest not-for-profit freestanding pediatric health care systems. He also has the appointment of tenured Associate Professor of Pediatrics in the School of Medicine at The Ohio State University.

He directs the Computational Genomics Group, leading a team of 30 high performing bioinformatics scientists, data scientists, software engineers and developers. He has substantial expertise in cloud computing and its applications in a combined healthcare and research setting. Leveraging the flexibility of the cloud, his group develops highly optimized solutions to address the substantial processing, networking and big data challenges arising from genomic science.

Peter’s research program focuses on rapidly analyzing and interpret genomic data sets, utilizing disruptive cloud computing technologies to aid variant discovery, data warehousing and machine learning. He is principal investigator of Nationwide Children’s rare disease genomics program that is discovering novel genetic etiologies in patients with rare or as yet to be diagnosed genetic disease. Additionally, through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, epilepsy, autism spectrum disorders, pediatric cancer and hematologic disorders. As developer and inventor of the balanced parallelization strategy for human genome analysis (named “Churchill”), Dr. White was founded GenomeNext LLC, a company providing Software as a Service for genomics applications.

Peter received his PhD in Molecular Biology from the University of Cambridge, England and completed his postdoctoral training in the Department of Genetics at The University of Pennsylvania, Philadelphia. He has over 20 years of experience in the field of genomics and computational biology, is the recipient of multiple awards from the National Institutes of Health and has authored over 80 peer reviewed publications with over 14,000 citations.

See Peter White’s Curriculum Vitae (CV)

Academic and Clinical Areas

Molecular Bioinformatics

Director

Biomedical Genomics Core

Director

Primary Department

Institute for Genomic Medicine

Academic and Clinical Areas

Molecular Bioinformatics

Director

Biomedical Genomics Core

Director

Primary Department

Institute for Genomic Medicine

Academic and Clinical Areas

Molecular Bioinformatics

Director

Biomedical Genomics Core

Director

Primary Department

Institute for Genomic Medicine

Molecular Bioinformatics

Director

Biomedical Genomics Core

Director

Primary Department

Institute for Genomic Medicine

• Molecular Bioinformatics
• Director
• Biomedical Genomics Core
• Director
• Primary Department
• Institute for Genomic Medicine

Awards, Honors & Organizations

Top 20 Healthcare Professionals, Columbus Business First, 2017 Team of the Year, Nationwide Children’s Hospital, 2017 The CLARITY Undiagnosed Challenege (1st Place), 2015 Faculty Achievement Award, Ohio State College of Medicine, 2015 The INTEL Head in the Clouds Challenge on AWS POC, 2014 The CLARITY Challenge (Finalist), 2013 Member, International Society for Computational Biology (ISCB), 2011 - Present Member, American Society of Human Genetics (ASHG), 2010 - Present Member, Association of Biomolecular Resource Facilities (ABRF), 2009 - Present Member, International Society for Developmental Origins of Health and Disease, 2009 - 2011 Member, Beta Cell Biology Consortium (BCBC), 2003 - 2008

Awards, Honors & Organizations

Top 20 Healthcare Professionals, Columbus Business First, 2017 Team of the Year, Nationwide Children’s Hospital, 2017 The CLARITY Undiagnosed Challenege (1st Place), 2015 Faculty Achievement Award, Ohio State College of Medicine, 2015 The INTEL Head in the Clouds Challenge on AWS POC, 2014 The CLARITY Challenge (Finalist), 2013 Member, International Society for Computational Biology (ISCB), 2011 - Present Member, American Society of Human Genetics (ASHG), 2010 - Present Member, Association of Biomolecular Resource Facilities (ABRF), 2009 - Present Member, International Society for Developmental Origins of Health and Disease, 2009 - 2011 Member, Beta Cell Biology Consortium (BCBC), 2003 - 2008

Awards, Honors & Organizations

Top 20 Healthcare Professionals, Columbus Business First, 2017 Team of the Year, Nationwide Children’s Hospital, 2017 The CLARITY Undiagnosed Challenege (1st Place), 2015 Faculty Achievement Award, Ohio State College of Medicine, 2015 The INTEL Head in the Clouds Challenge on AWS POC, 2014 The CLARITY Challenge (Finalist), 2013 Member, International Society for Computational Biology (ISCB), 2011 - Present Member, American Society of Human Genetics (ASHG), 2010 - Present Member, Association of Biomolecular Resource Facilities (ABRF), 2009 - Present Member, International Society for Developmental Origins of Health and Disease, 2009 - 2011 Member, Beta Cell Biology Consortium (BCBC), 2003 - 2008

Top 20 Healthcare Professionals, Columbus Business First, 2017 Team of the Year, Nationwide Children’s Hospital, 2017 The CLARITY Undiagnosed Challenege (1st Place), 2015 Faculty Achievement Award, Ohio State College of Medicine, 2015 The INTEL Head in the Clouds Challenge on AWS POC, 2014 The CLARITY Challenge (Finalist), 2013 Member, International Society for Computational Biology (ISCB), 2011 - Present Member, American Society of Human Genetics (ASHG), 2010 - Present Member, Association of Biomolecular Resource Facilities (ABRF), 2009 - Present Member, International Society for Developmental Origins of Health and Disease, 2009 - 2011 Member, Beta Cell Biology Consortium (BCBC), 2003 - 2008

• Top 20 Healthcare Professionals, Columbus Business First, 2017
• Team of the Year, Nationwide Children’s Hospital, 2017
• The CLARITY Undiagnosed Challenege (1st Place), 2015
• Faculty Achievement Award, Ohio State College of Medicine, 2015
• The INTEL Head in the Clouds Challenge on AWS POC, 2014
• The CLARITY Challenge (Finalist), 2013
• Member, International Society for Computational Biology (ISCB), 2011 - Present
• Member, American Society of Human Genetics (ASHG), 2010 - Present
• Member, Association of Biomolecular Resource Facilities (ABRF), 2009 - Present
• Member, International Society for Developmental Origins of Health and Disease, 2009 - 2011
• Member, Beta Cell Biology Consortium (BCBC), 2003 - 2008

Research

Peter’s research program focuses on rapidly analyzing and interpret genomic data sets, utilizing disruptive cloud computing technologies to aid variant discovery, data warehousing and machine learning. He is principal investigator of Nationwide Children’s rare disease genomics program that is discovering novel genetic etiologies in patients with rare or as yet to be diagnosed genetic disease. Additionally, through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, epilepsy, autism spectrum disorders, pediatric cancer and hematologic disorders. Through whole genome sequencing and implementation of novel computational methods, his group is developing approaches to identify pathogenic variants that do not directly impact the protein coding sequence, such as intronic or synonymous variants, and structural variants that are not possible to detect with traditional molecular methods.

View My Publications

Publications

                  Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5: 

                


                  Locke LW, Crouser ED, White P, Julian MW, Guirado Caceres E, Papp AC, Le VT, Sadee W, Schlesinger LS. IL-13-regulated Macrophage Polarization during Granuloma Formation in an In Vitro Human Sarcoidosis Model. Am J Respir Cell Mol Biol. 2018 Aug 22;  

                


                  Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P. A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. Cold Spring Harb Mol Case Stud. 2018 Jun; 4: 

                


                  Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Mol Psychiatry. 2018 May 4;  

                


                  Miller KE, Kelly B, Fitch J, Ross N, Avenarius MR, Varga E, Koboldt DC, Boué DR, Magrini V, Coven SL, Finlay JL, Cottrell CE, White P, Gastier-Foster JM, Wilson RK, Leonard J, Mardis ER. Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma. Cold Spring Harb Mol Case Stud. 2018 Apr; 4: 

                


                  Tsutiya A, Nakano Y, Hansen-Kiss E, Kelly B, Nishihara M, Goshima Y, Corsmeier D, White P, Herman GE, Ohtani-Kaneko R. Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism. Sci Rep. 2017 Dec 1; 7: 16812.

                


                  Crouser ED, White P, Caceres EG, Julian MW, Papp AC, Locke LW, Sadee W, Schlesinger LS. A Novel In Vitro Human Granuloma Model of Sarcoidosis and Latent Tuberculosis Infection. Am J Respir Cell Mol Biol. 2017 Oct; 57: 487-498.

                


                  Guess AJ, Daneault B, Wang R, Bradbury H, La Perle KMD, Fitch J, Hedrick SL, Hamelberg E, Astbury C, White P, Overolt K, Rangarajan H, Abu-Arja R, Devine SM, Otsuru S, Dominici M, O'Donnell L, Horwitz EM. Safety Profile of Good Manufacturing Practice Manufactured Interferon ?-Primed Mesenchymal Stem/Stromal Cells for Clinical Trials. Stem Cells Transl Med. 2017 Oct; 6: 1868-1879.

                


                  Zygmunt DA, Singhal N, Kim ML, Cramer ML, Crowe KE, Xu R, Jia Y, Adair J, Martinez-Pena Y Valenzuela I, Akaaboune M, White P, Janssen PM, Martin PT. Deletion of Pofut1 in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in cis and in trans. Mol Cell Biol. 2017 May 15; 37: 

                


                  Hoang KV, Adcox HE, Fitch JR, Gordon DM, Curry HM, Schlesinger LS, White P, Gunn JS. AR-13, a Celecoxib Derivative, Directly Kills Francisella In Vitro and Aids Clearance and Mouse Survival In Vivo. Front Microbiol. 2017; 8: 1695.

                


                  Sotos J, Miller K, Corsmeier D, Tokar N, Kelly B, Nadella V, Zhong H, Wetzel A, Adler B, Yu CY, White P. A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia. Int J Pediatr Endocrinol. 2017; 2017: 12.

                


                  Lintner KE, Patwardhan A, Rider LG, Abdul-Aziz R, Wu YL, Lundström E, Padyukov L, Zhou B, Alhomosh A, Newsom D, White P, Jones KB, O'Hanlon TP, Miller FW, Spencer CH, Yu CY. Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis. Ann Rheum Dis. 2016 Sep; 75: 1599-606.

                


                  Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D'Alessandro LC, Morris SA, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Popoola M, Wadhwa L, Brook JD, Bu'Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet. 2016 Jun 1; 25: 2331-2341.

                


                  Cancer Genome Atlas Network.. Genomic Classification of Cutaneous Melanoma. Cell. 2015 Jun 18; 161: 1681-96.

                


                  Duncan FJ, Naughton BJ, Zaraspe K, Murrey DA, Meadows AS, Clark KR, Newsom DE, White P, Fu H, McCarty DM. Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice. Mol Ther. 2015 Apr; 23: 638-47.

                


                  Naughton BJ, Duncan FJ, Murrey DA, Meadows AS, Newsom DE, Stoicea N, White P, Scharre DW, Mccarty DM, Fu H. Blood genome-wide transcriptional profiles reflect broad molecular impairments and strong blood-brain links in Alzheimer's disease. J Alzheimers Dis. 2015; 43: 93-108.

                


                  Kelly BJ, Fitch JR, Hu Y, Corsmeier DJ, Zhong H, Wetzel AN, Nordquist RD, Newsom DL, White P. Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics. Genome Biol. 2015 Jan 20; 16: 6.

                


                  Bonachea EM, Zender G, White P, Corsmeier D, Newsom D, Fitzgerald-Butt S, Garg V, McBride KL. Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve. BMC Med Genomics. 2014 Sep 26; 7: 56.

                


                  Elgamal S, Katz A, Hersch SJ, Newsom D, White P, Navarre WW, Ibba M. EF-P dependent pauses integrate proximal and distal signals during translation. PLoS Genet. 2014 Aug; 10: e1004553.

                


                  Ali MM, Newsom DL, González JF, Sabag-Daigle A, Stahl C, Steidley B, Dubena J, Dyszel JL, Smith JN, Dieye Y, Arsenescu R, Boyaka PN, Krakowka S, Romeo T, Behrman EJ, White P, Ahmer BM. Fructose-asparagine is a primary nutrient during growth of Salmonella in the inflamed intestine. PLoS Pathog. 2014 Jun; 10: e1004209.

                


                  Jones CJ, Newsom D, Kelly B, Irie Y, Jennings LK, Xu B, Limoli DH, Harrison JJ, Parsek MR, White P, Wozniak DJ. ChIP-Seq and RNA-Seq reveal an AmrZ-mediated mechanism for cyclic di-GMP synthesis and biofilm development by Pseudomonas aeruginosa. PLoS Pathog. 2014 Mar; 10: e1003984.

                


                  Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzynski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrecic L, Palandacic A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15: R53.

                


                  Santana EA, Harrison A, Zhang X, Baker BD, Kelly BJ, White P, Liu Y, Munson RS Jr. HrrF is the Fur-regulated small RNA in nontypeable Haemophilus influenzae. PLoS One. 2014; 9: e105644.

View More Publications

Research

Peter’s research program focuses on rapidly analyzing and interpret genomic data sets, utilizing disruptive cloud computing technologies to aid variant discovery, data warehousing and machine learning. He is principal investigator of Nationwide Children’s rare disease genomics program that is discovering novel genetic etiologies in patients with rare or as yet to be diagnosed genetic disease. Additionally, through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, epilepsy, autism spectrum disorders, pediatric cancer and hematologic disorders. Through whole genome sequencing and implementation of novel computational methods, his group is developing approaches to identify pathogenic variants that do not directly impact the protein coding sequence, such as intronic or synonymous variants, and structural variants that are not possible to detect with traditional molecular methods.

View My Publications

Publications

                  Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5: 

                


                  Locke LW, Crouser ED, White P, Julian MW, Guirado Caceres E, Papp AC, Le VT, Sadee W, Schlesinger LS. IL-13-regulated Macrophage Polarization during Granuloma Formation in an In Vitro Human Sarcoidosis Model. Am J Respir Cell Mol Biol. 2018 Aug 22;  

                


                  Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P. A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. Cold Spring Harb Mol Case Stud. 2018 Jun; 4: 

                


                  Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Mol Psychiatry. 2018 May 4;  

                


                  Miller KE, Kelly B, Fitch J, Ross N, Avenarius MR, Varga E, Koboldt DC, Boué DR, Magrini V, Coven SL, Finlay JL, Cottrell CE, White P, Gastier-Foster JM, Wilson RK, Leonard J, Mardis ER. Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma. Cold Spring Harb Mol Case Stud. 2018 Apr; 4: 

                


                  Tsutiya A, Nakano Y, Hansen-Kiss E, Kelly B, Nishihara M, Goshima Y, Corsmeier D, White P, Herman GE, Ohtani-Kaneko R. Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism. Sci Rep. 2017 Dec 1; 7: 16812.

                


                  Crouser ED, White P, Caceres EG, Julian MW, Papp AC, Locke LW, Sadee W, Schlesinger LS. A Novel In Vitro Human Granuloma Model of Sarcoidosis and Latent Tuberculosis Infection. Am J Respir Cell Mol Biol. 2017 Oct; 57: 487-498.

                


                  Guess AJ, Daneault B, Wang R, Bradbury H, La Perle KMD, Fitch J, Hedrick SL, Hamelberg E, Astbury C, White P, Overolt K, Rangarajan H, Abu-Arja R, Devine SM, Otsuru S, Dominici M, O'Donnell L, Horwitz EM. Safety Profile of Good Manufacturing Practice Manufactured Interferon ?-Primed Mesenchymal Stem/Stromal Cells for Clinical Trials. Stem Cells Transl Med. 2017 Oct; 6: 1868-1879.

                


                  Zygmunt DA, Singhal N, Kim ML, Cramer ML, Crowe KE, Xu R, Jia Y, Adair J, Martinez-Pena Y Valenzuela I, Akaaboune M, White P, Janssen PM, Martin PT. Deletion of Pofut1 in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in cis and in trans. Mol Cell Biol. 2017 May 15; 37: 

                


                  Hoang KV, Adcox HE, Fitch JR, Gordon DM, Curry HM, Schlesinger LS, White P, Gunn JS. AR-13, a Celecoxib Derivative, Directly Kills Francisella In Vitro and Aids Clearance and Mouse Survival In Vivo. Front Microbiol. 2017; 8: 1695.

                


                  Sotos J, Miller K, Corsmeier D, Tokar N, Kelly B, Nadella V, Zhong H, Wetzel A, Adler B, Yu CY, White P. A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia. Int J Pediatr Endocrinol. 2017; 2017: 12.

                


                  Lintner KE, Patwardhan A, Rider LG, Abdul-Aziz R, Wu YL, Lundström E, Padyukov L, Zhou B, Alhomosh A, Newsom D, White P, Jones KB, O'Hanlon TP, Miller FW, Spencer CH, Yu CY. Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis. Ann Rheum Dis. 2016 Sep; 75: 1599-606.

                


                  Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D'Alessandro LC, Morris SA, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Popoola M, Wadhwa L, Brook JD, Bu'Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet. 2016 Jun 1; 25: 2331-2341.

                


                  Cancer Genome Atlas Network.. Genomic Classification of Cutaneous Melanoma. Cell. 2015 Jun 18; 161: 1681-96.

                


                  Duncan FJ, Naughton BJ, Zaraspe K, Murrey DA, Meadows AS, Clark KR, Newsom DE, White P, Fu H, McCarty DM. Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice. Mol Ther. 2015 Apr; 23: 638-47.

                


                  Naughton BJ, Duncan FJ, Murrey DA, Meadows AS, Newsom DE, Stoicea N, White P, Scharre DW, Mccarty DM, Fu H. Blood genome-wide transcriptional profiles reflect broad molecular impairments and strong blood-brain links in Alzheimer's disease. J Alzheimers Dis. 2015; 43: 93-108.

                


                  Kelly BJ, Fitch JR, Hu Y, Corsmeier DJ, Zhong H, Wetzel AN, Nordquist RD, Newsom DL, White P. Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics. Genome Biol. 2015 Jan 20; 16: 6.

                


                  Bonachea EM, Zender G, White P, Corsmeier D, Newsom D, Fitzgerald-Butt S, Garg V, McBride KL. Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve. BMC Med Genomics. 2014 Sep 26; 7: 56.

                


                  Elgamal S, Katz A, Hersch SJ, Newsom D, White P, Navarre WW, Ibba M. EF-P dependent pauses integrate proximal and distal signals during translation. PLoS Genet. 2014 Aug; 10: e1004553.

                


                  Ali MM, Newsom DL, González JF, Sabag-Daigle A, Stahl C, Steidley B, Dubena J, Dyszel JL, Smith JN, Dieye Y, Arsenescu R, Boyaka PN, Krakowka S, Romeo T, Behrman EJ, White P, Ahmer BM. Fructose-asparagine is a primary nutrient during growth of Salmonella in the inflamed intestine. PLoS Pathog. 2014 Jun; 10: e1004209.

                


                  Jones CJ, Newsom D, Kelly B, Irie Y, Jennings LK, Xu B, Limoli DH, Harrison JJ, Parsek MR, White P, Wozniak DJ. ChIP-Seq and RNA-Seq reveal an AmrZ-mediated mechanism for cyclic di-GMP synthesis and biofilm development by Pseudomonas aeruginosa. PLoS Pathog. 2014 Mar; 10: e1003984.

                


                  Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzynski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrecic L, Palandacic A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15: R53.

                


                  Santana EA, Harrison A, Zhang X, Baker BD, Kelly BJ, White P, Liu Y, Munson RS Jr. HrrF is the Fur-regulated small RNA in nontypeable Haemophilus influenzae. PLoS One. 2014; 9: e105644.

View More Publications

Research

Peter’s research program focuses on rapidly analyzing and interpret genomic data sets, utilizing disruptive cloud computing technologies to aid variant discovery, data warehousing and machine learning. He is principal investigator of Nationwide Children’s rare disease genomics program that is discovering novel genetic etiologies in patients with rare or as yet to be diagnosed genetic disease. Additionally, through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, epilepsy, autism spectrum disorders, pediatric cancer and hematologic disorders. Through whole genome sequencing and implementation of novel computational methods, his group is developing approaches to identify pathogenic variants that do not directly impact the protein coding sequence, such as intronic or synonymous variants, and structural variants that are not possible to detect with traditional molecular methods.

View My Publications

Publications

                  Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5: 

                


                  Locke LW, Crouser ED, White P, Julian MW, Guirado Caceres E, Papp AC, Le VT, Sadee W, Schlesinger LS. IL-13-regulated Macrophage Polarization during Granuloma Formation in an In Vitro Human Sarcoidosis Model. Am J Respir Cell Mol Biol. 2018 Aug 22;  

                


                  Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P. A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. Cold Spring Harb Mol Case Stud. 2018 Jun; 4: 

                


                  Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Mol Psychiatry. 2018 May 4;  

                


                  Miller KE, Kelly B, Fitch J, Ross N, Avenarius MR, Varga E, Koboldt DC, Boué DR, Magrini V, Coven SL, Finlay JL, Cottrell CE, White P, Gastier-Foster JM, Wilson RK, Leonard J, Mardis ER. Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma. Cold Spring Harb Mol Case Stud. 2018 Apr; 4: 

                


                  Tsutiya A, Nakano Y, Hansen-Kiss E, Kelly B, Nishihara M, Goshima Y, Corsmeier D, White P, Herman GE, Ohtani-Kaneko R. Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism. Sci Rep. 2017 Dec 1; 7: 16812.

                


                  Crouser ED, White P, Caceres EG, Julian MW, Papp AC, Locke LW, Sadee W, Schlesinger LS. A Novel In Vitro Human Granuloma Model of Sarcoidosis and Latent Tuberculosis Infection. Am J Respir Cell Mol Biol. 2017 Oct; 57: 487-498.

                


                  Guess AJ, Daneault B, Wang R, Bradbury H, La Perle KMD, Fitch J, Hedrick SL, Hamelberg E, Astbury C, White P, Overolt K, Rangarajan H, Abu-Arja R, Devine SM, Otsuru S, Dominici M, O'Donnell L, Horwitz EM. Safety Profile of Good Manufacturing Practice Manufactured Interferon ?-Primed Mesenchymal Stem/Stromal Cells for Clinical Trials. Stem Cells Transl Med. 2017 Oct; 6: 1868-1879.

                


                  Zygmunt DA, Singhal N, Kim ML, Cramer ML, Crowe KE, Xu R, Jia Y, Adair J, Martinez-Pena Y Valenzuela I, Akaaboune M, White P, Janssen PM, Martin PT. Deletion of Pofut1 in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in cis and in trans. Mol Cell Biol. 2017 May 15; 37: 

                


                  Hoang KV, Adcox HE, Fitch JR, Gordon DM, Curry HM, Schlesinger LS, White P, Gunn JS. AR-13, a Celecoxib Derivative, Directly Kills Francisella In Vitro and Aids Clearance and Mouse Survival In Vivo. Front Microbiol. 2017; 8: 1695.

                


                  Sotos J, Miller K, Corsmeier D, Tokar N, Kelly B, Nadella V, Zhong H, Wetzel A, Adler B, Yu CY, White P. A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia. Int J Pediatr Endocrinol. 2017; 2017: 12.

                


                  Lintner KE, Patwardhan A, Rider LG, Abdul-Aziz R, Wu YL, Lundström E, Padyukov L, Zhou B, Alhomosh A, Newsom D, White P, Jones KB, O'Hanlon TP, Miller FW, Spencer CH, Yu CY. Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis. Ann Rheum Dis. 2016 Sep; 75: 1599-606.

                


                  Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D'Alessandro LC, Morris SA, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Popoola M, Wadhwa L, Brook JD, Bu'Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet. 2016 Jun 1; 25: 2331-2341.

                


                  Cancer Genome Atlas Network.. Genomic Classification of Cutaneous Melanoma. Cell. 2015 Jun 18; 161: 1681-96.

                


                  Duncan FJ, Naughton BJ, Zaraspe K, Murrey DA, Meadows AS, Clark KR, Newsom DE, White P, Fu H, McCarty DM. Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice. Mol Ther. 2015 Apr; 23: 638-47.

                


                  Naughton BJ, Duncan FJ, Murrey DA, Meadows AS, Newsom DE, Stoicea N, White P, Scharre DW, Mccarty DM, Fu H. Blood genome-wide transcriptional profiles reflect broad molecular impairments and strong blood-brain links in Alzheimer's disease. J Alzheimers Dis. 2015; 43: 93-108.

                


                  Kelly BJ, Fitch JR, Hu Y, Corsmeier DJ, Zhong H, Wetzel AN, Nordquist RD, Newsom DL, White P. Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics. Genome Biol. 2015 Jan 20; 16: 6.

                


                  Bonachea EM, Zender G, White P, Corsmeier D, Newsom D, Fitzgerald-Butt S, Garg V, McBride KL. Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve. BMC Med Genomics. 2014 Sep 26; 7: 56.

                


                  Elgamal S, Katz A, Hersch SJ, Newsom D, White P, Navarre WW, Ibba M. EF-P dependent pauses integrate proximal and distal signals during translation. PLoS Genet. 2014 Aug; 10: e1004553.

                


                  Ali MM, Newsom DL, González JF, Sabag-Daigle A, Stahl C, Steidley B, Dubena J, Dyszel JL, Smith JN, Dieye Y, Arsenescu R, Boyaka PN, Krakowka S, Romeo T, Behrman EJ, White P, Ahmer BM. Fructose-asparagine is a primary nutrient during growth of Salmonella in the inflamed intestine. PLoS Pathog. 2014 Jun; 10: e1004209.

                


                  Jones CJ, Newsom D, Kelly B, Irie Y, Jennings LK, Xu B, Limoli DH, Harrison JJ, Parsek MR, White P, Wozniak DJ. ChIP-Seq and RNA-Seq reveal an AmrZ-mediated mechanism for cyclic di-GMP synthesis and biofilm development by Pseudomonas aeruginosa. PLoS Pathog. 2014 Mar; 10: e1003984.

                


                  Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzynski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrecic L, Palandacic A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15: R53.

                


                  Santana EA, Harrison A, Zhang X, Baker BD, Kelly BJ, White P, Liu Y, Munson RS Jr. HrrF is the Fur-regulated small RNA in nontypeable Haemophilus influenzae. PLoS One. 2014; 9: e105644.

View More Publications

Peter’s research program focuses on rapidly analyzing and interpret genomic data sets, utilizing disruptive cloud computing technologies to aid variant discovery, data warehousing and machine learning. He is principal investigator of Nationwide Children’s rare disease genomics program that is discovering novel genetic etiologies in patients with rare or as yet to be diagnosed genetic disease. Additionally, through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, epilepsy, autism spectrum disorders, pediatric cancer and hematologic disorders. Through whole genome sequencing and implementation of novel computational methods, his group is developing approaches to identify pathogenic variants that do not directly impact the protein coding sequence, such as intronic or synonymous variants, and structural variants that are not possible to detect with traditional molecular methods.

View My Publications

Publications

                  Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5: 

                


                  Locke LW, Crouser ED, White P, Julian MW, Guirado Caceres E, Papp AC, Le VT, Sadee W, Schlesinger LS. IL-13-regulated Macrophage Polarization during Granuloma Formation in an In Vitro Human Sarcoidosis Model. Am J Respir Cell Mol Biol. 2018 Aug 22;  

                


                  Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P. A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. Cold Spring Harb Mol Case Stud. 2018 Jun; 4: 

                


                  Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Mol Psychiatry. 2018 May 4;  

                


                  Miller KE, Kelly B, Fitch J, Ross N, Avenarius MR, Varga E, Koboldt DC, Boué DR, Magrini V, Coven SL, Finlay JL, Cottrell CE, White P, Gastier-Foster JM, Wilson RK, Leonard J, Mardis ER. Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma. Cold Spring Harb Mol Case Stud. 2018 Apr; 4: 

                


                  Tsutiya A, Nakano Y, Hansen-Kiss E, Kelly B, Nishihara M, Goshima Y, Corsmeier D, White P, Herman GE, Ohtani-Kaneko R. Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism. Sci Rep. 2017 Dec 1; 7: 16812.

                


                  Crouser ED, White P, Caceres EG, Julian MW, Papp AC, Locke LW, Sadee W, Schlesinger LS. A Novel In Vitro Human Granuloma Model of Sarcoidosis and Latent Tuberculosis Infection. Am J Respir Cell Mol Biol. 2017 Oct; 57: 487-498.

                


                  Guess AJ, Daneault B, Wang R, Bradbury H, La Perle KMD, Fitch J, Hedrick SL, Hamelberg E, Astbury C, White P, Overolt K, Rangarajan H, Abu-Arja R, Devine SM, Otsuru S, Dominici M, O'Donnell L, Horwitz EM. Safety Profile of Good Manufacturing Practice Manufactured Interferon ?-Primed Mesenchymal Stem/Stromal Cells for Clinical Trials. Stem Cells Transl Med. 2017 Oct; 6: 1868-1879.

                


                  Zygmunt DA, Singhal N, Kim ML, Cramer ML, Crowe KE, Xu R, Jia Y, Adair J, Martinez-Pena Y Valenzuela I, Akaaboune M, White P, Janssen PM, Martin PT. Deletion of Pofut1 in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in cis and in trans. Mol Cell Biol. 2017 May 15; 37: 

                


                  Hoang KV, Adcox HE, Fitch JR, Gordon DM, Curry HM, Schlesinger LS, White P, Gunn JS. AR-13, a Celecoxib Derivative, Directly Kills Francisella In Vitro and Aids Clearance and Mouse Survival In Vivo. Front Microbiol. 2017; 8: 1695.

                


                  Sotos J, Miller K, Corsmeier D, Tokar N, Kelly B, Nadella V, Zhong H, Wetzel A, Adler B, Yu CY, White P. A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia. Int J Pediatr Endocrinol. 2017; 2017: 12.

                


                  Lintner KE, Patwardhan A, Rider LG, Abdul-Aziz R, Wu YL, Lundström E, Padyukov L, Zhou B, Alhomosh A, Newsom D, White P, Jones KB, O'Hanlon TP, Miller FW, Spencer CH, Yu CY. Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis. Ann Rheum Dis. 2016 Sep; 75: 1599-606.

                


                  Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D'Alessandro LC, Morris SA, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Popoola M, Wadhwa L, Brook JD, Bu'Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet. 2016 Jun 1; 25: 2331-2341.

                


                  Cancer Genome Atlas Network.. Genomic Classification of Cutaneous Melanoma. Cell. 2015 Jun 18; 161: 1681-96.

                


                  Duncan FJ, Naughton BJ, Zaraspe K, Murrey DA, Meadows AS, Clark KR, Newsom DE, White P, Fu H, McCarty DM. Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice. Mol Ther. 2015 Apr; 23: 638-47.

                


                  Naughton BJ, Duncan FJ, Murrey DA, Meadows AS, Newsom DE, Stoicea N, White P, Scharre DW, Mccarty DM, Fu H. Blood genome-wide transcriptional profiles reflect broad molecular impairments and strong blood-brain links in Alzheimer's disease. J Alzheimers Dis. 2015; 43: 93-108.

                


                  Kelly BJ, Fitch JR, Hu Y, Corsmeier DJ, Zhong H, Wetzel AN, Nordquist RD, Newsom DL, White P. Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics. Genome Biol. 2015 Jan 20; 16: 6.

                


                  Bonachea EM, Zender G, White P, Corsmeier D, Newsom D, Fitzgerald-Butt S, Garg V, McBride KL. Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve. BMC Med Genomics. 2014 Sep 26; 7: 56.

                


                  Elgamal S, Katz A, Hersch SJ, Newsom D, White P, Navarre WW, Ibba M. EF-P dependent pauses integrate proximal and distal signals during translation. PLoS Genet. 2014 Aug; 10: e1004553.

                


                  Ali MM, Newsom DL, González JF, Sabag-Daigle A, Stahl C, Steidley B, Dubena J, Dyszel JL, Smith JN, Dieye Y, Arsenescu R, Boyaka PN, Krakowka S, Romeo T, Behrman EJ, White P, Ahmer BM. Fructose-asparagine is a primary nutrient during growth of Salmonella in the inflamed intestine. PLoS Pathog. 2014 Jun; 10: e1004209.

                


                  Jones CJ, Newsom D, Kelly B, Irie Y, Jennings LK, Xu B, Limoli DH, Harrison JJ, Parsek MR, White P, Wozniak DJ. ChIP-Seq and RNA-Seq reveal an AmrZ-mediated mechanism for cyclic di-GMP synthesis and biofilm development by Pseudomonas aeruginosa. PLoS Pathog. 2014 Mar; 10: e1003984.

                


                  Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzynski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrecic L, Palandacic A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15: R53.

                


                  Santana EA, Harrison A, Zhang X, Baker BD, Kelly BJ, White P, Liu Y, Munson RS Jr. HrrF is the Fur-regulated small RNA in nontypeable Haemophilus influenzae. PLoS One. 2014; 9: e105644.

View More Publications

Peter’s research program focuses on rapidly analyzing and interpret genomic data sets, utilizing disruptive cloud computing technologies to aid variant discovery, data warehousing and machine learning. He is principal investigator of Nationwide Children’s rare disease genomics program that is discovering novel genetic etiologies in patients with rare or as yet to be diagnosed genetic disease. Additionally, through genomic analysis of individuals, families and populations, his team is discovering genetic variation associated with diseases such as congenital heart defects, epilepsy, autism spectrum disorders, pediatric cancer and hematologic disorders. Through whole genome sequencing and implementation of novel computational methods, his group is developing approaches to identify pathogenic variants that do not directly impact the protein coding sequence, such as intronic or synonymous variants, and structural variants that are not possible to detect with traditional molecular methods.

• View My Publications

                  Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5: 
  
  
  
                  Locke LW, Crouser ED, White P, Julian MW, Guirado Caceres E, Papp AC, Le VT, Sadee W, Schlesinger LS. IL-13-regulated Macrophage Polarization during Granuloma Formation in an In Vitro Human Sarcoidosis Model. Am J Respir Cell Mol Biol. 2018 Aug 22;  
  
  
  
                  Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P. A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. Cold Spring Harb Mol Case Stud. 2018 Jun; 4: 
  
  
  
                  Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Mol Psychiatry. 2018 May 4;  
  
  
  
                  Miller KE, Kelly B, Fitch J, Ross N, Avenarius MR, Varga E, Koboldt DC, Boué DR, Magrini V, Coven SL, Finlay JL, Cottrell CE, White P, Gastier-Foster JM, Wilson RK, Leonard J, Mardis ER. Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma. Cold Spring Harb Mol Case Stud. 2018 Apr; 4: 
  
  
  
                  Tsutiya A, Nakano Y, Hansen-Kiss E, Kelly B, Nishihara M, Goshima Y, Corsmeier D, White P, Herman GE, Ohtani-Kaneko R. Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism. Sci Rep. 2017 Dec 1; 7: 16812.
  
  
  
                  Crouser ED, White P, Caceres EG, Julian MW, Papp AC, Locke LW, Sadee W, Schlesinger LS. A Novel In Vitro Human Granuloma Model of Sarcoidosis and Latent Tuberculosis Infection. Am J Respir Cell Mol Biol. 2017 Oct; 57: 487-498.
  
  
  
                  Guess AJ, Daneault B, Wang R, Bradbury H, La Perle KMD, Fitch J, Hedrick SL, Hamelberg E, Astbury C, White P, Overolt K, Rangarajan H, Abu-Arja R, Devine SM, Otsuru S, Dominici M, O'Donnell L, Horwitz EM. Safety Profile of Good Manufacturing Practice Manufactured Interferon ?-Primed Mesenchymal Stem/Stromal Cells for Clinical Trials. Stem Cells Transl Med. 2017 Oct; 6: 1868-1879.
  
  
  
                  Zygmunt DA, Singhal N, Kim ML, Cramer ML, Crowe KE, Xu R, Jia Y, Adair J, Martinez-Pena Y Valenzuela I, Akaaboune M, White P, Janssen PM, Martin PT. Deletion of Pofut1 in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in cis and in trans. Mol Cell Biol. 2017 May 15; 37: 
  
  
  
                  Hoang KV, Adcox HE, Fitch JR, Gordon DM, Curry HM, Schlesinger LS, White P, Gunn JS. AR-13, a Celecoxib Derivative, Directly Kills Francisella In Vitro and Aids Clearance and Mouse Survival In Vivo. Front Microbiol. 2017; 8: 1695.
  
  
  
                  Sotos J, Miller K, Corsmeier D, Tokar N, Kelly B, Nadella V, Zhong H, Wetzel A, Adler B, Yu CY, White P. A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia. Int J Pediatr Endocrinol. 2017; 2017: 12.
  
  
  
                  Lintner KE, Patwardhan A, Rider LG, Abdul-Aziz R, Wu YL, Lundström E, Padyukov L, Zhou B, Alhomosh A, Newsom D, White P, Jones KB, O'Hanlon TP, Miller FW, Spencer CH, Yu CY. Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis. Ann Rheum Dis. 2016 Sep; 75: 1599-606.
  
  
  
                  Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D'Alessandro LC, Morris SA, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Popoola M, Wadhwa L, Brook JD, Bu'Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet. 2016 Jun 1; 25: 2331-2341.
  
  
  
                  Cancer Genome Atlas Network.. Genomic Classification of Cutaneous Melanoma. Cell. 2015 Jun 18; 161: 1681-96.
  
  
  
                  Duncan FJ, Naughton BJ, Zaraspe K, Murrey DA, Meadows AS, Clark KR, Newsom DE, White P, Fu H, McCarty DM. Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice. Mol Ther. 2015 Apr; 23: 638-47.
  
  
  
                  Naughton BJ, Duncan FJ, Murrey DA, Meadows AS, Newsom DE, Stoicea N, White P, Scharre DW, Mccarty DM, Fu H. Blood genome-wide transcriptional profiles reflect broad molecular impairments and strong blood-brain links in Alzheimer's disease. J Alzheimers Dis. 2015; 43: 93-108.
  
  
  
                  Kelly BJ, Fitch JR, Hu Y, Corsmeier DJ, Zhong H, Wetzel AN, Nordquist RD, Newsom DL, White P. Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics. Genome Biol. 2015 Jan 20; 16: 6.
  
  
  
                  Bonachea EM, Zender G, White P, Corsmeier D, Newsom D, Fitzgerald-Butt S, Garg V, McBride KL. Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve. BMC Med Genomics. 2014 Sep 26; 7: 56.
  
  
  
                  Elgamal S, Katz A, Hersch SJ, Newsom D, White P, Navarre WW, Ibba M. EF-P dependent pauses integrate proximal and distal signals during translation. PLoS Genet. 2014 Aug; 10: e1004553.
  
  
  
                  Ali MM, Newsom DL, González JF, Sabag-Daigle A, Stahl C, Steidley B, Dubena J, Dyszel JL, Smith JN, Dieye Y, Arsenescu R, Boyaka PN, Krakowka S, Romeo T, Behrman EJ, White P, Ahmer BM. Fructose-asparagine is a primary nutrient during growth of Salmonella in the inflamed intestine. PLoS Pathog. 2014 Jun; 10: e1004209.
  
  
  
                  Jones CJ, Newsom D, Kelly B, Irie Y, Jennings LK, Xu B, Limoli DH, Harrison JJ, Parsek MR, White P, Wozniak DJ. ChIP-Seq and RNA-Seq reveal an AmrZ-mediated mechanism for cyclic di-GMP synthesis and biofilm development by Pseudomonas aeruginosa. PLoS Pathog. 2014 Mar; 10: e1003984.
  
  
  
                  Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzynski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrecic L, Palandacic A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15: R53.
  
  
  
                  Santana EA, Harrison A, Zhang X, Baker BD, Kelly BJ, White P, Liu Y, Munson RS Jr. HrrF is the Fur-regulated small RNA in nontypeable Haemophilus influenzae. PLoS One. 2014; 9: e105644.
  
  

View More Publications

• Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harb Mol Case Stud. 2019 Dec; 5:
• Locke LW, Crouser ED, White P, Julian MW, Guirado Caceres E, Papp AC, Le VT, Sadee W, Schlesinger LS. IL-13-regulated Macrophage Polarization during Granuloma Formation in an In Vitro Human Sarcoidosis Model. Am J Respir Cell Mol Biol. 2018 Aug 22;
• Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P. A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. Cold Spring Harb Mol Case Stud. 2018 Jun; 4:
• Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Mol Psychiatry. 2018 May 4;
• Miller KE, Kelly B, Fitch J, Ross N, Avenarius MR, Varga E, Koboldt DC, Boué DR, Magrini V, Coven SL, Finlay JL, Cottrell CE, White P, Gastier-Foster JM, Wilson RK, Leonard J, Mardis ER. Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma. Cold Spring Harb Mol Case Stud. 2018 Apr; 4:
• Tsutiya A, Nakano Y, Hansen-Kiss E, Kelly B, Nishihara M, Goshima Y, Corsmeier D, White P, Herman GE, Ohtani-Kaneko R. Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism. Sci Rep. 2017 Dec 1; 7: 16812.
• Crouser ED, White P, Caceres EG, Julian MW, Papp AC, Locke LW, Sadee W, Schlesinger LS. A Novel In Vitro Human Granuloma Model of Sarcoidosis and Latent Tuberculosis Infection. Am J Respir Cell Mol Biol. 2017 Oct; 57: 487-498.
• Guess AJ, Daneault B, Wang R, Bradbury H, La Perle KMD, Fitch J, Hedrick SL, Hamelberg E, Astbury C, White P, Overolt K, Rangarajan H, Abu-Arja R, Devine SM, Otsuru S, Dominici M, O’Donnell L, Horwitz EM. Safety Profile of Good Manufacturing Practice Manufactured Interferon ?-Primed Mesenchymal Stem/Stromal Cells for Clinical Trials. Stem Cells Transl Med. 2017 Oct; 6: 1868-1879.
• Zygmunt DA, Singhal N, Kim ML, Cramer ML, Crowe KE, Xu R, Jia Y, Adair J, Martinez-Pena Y Valenzuela I, Akaaboune M, White P, Janssen PM, Martin PT. Deletion of Pofut1 in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in cis and in trans. Mol Cell Biol. 2017 May 15; 37:
• Hoang KV, Adcox HE, Fitch JR, Gordon DM, Curry HM, Schlesinger LS, White P, Gunn JS. AR-13, a Celecoxib Derivative, Directly Kills Francisella In Vitro and Aids Clearance and Mouse Survival In Vivo. Front Microbiol. 2017; 8: 1695.
• Sotos J, Miller K, Corsmeier D, Tokar N, Kelly B, Nadella V, Zhong H, Wetzel A, Adler B, Yu CY, White P. A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia. Int J Pediatr Endocrinol. 2017; 2017: 12.
• Lintner KE, Patwardhan A, Rider LG, Abdul-Aziz R, Wu YL, Lundström E, Padyukov L, Zhou B, Alhomosh A, Newsom D, White P, Jones KB, O’Hanlon TP, Miller FW, Spencer CH, Yu CY. Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis. Ann Rheum Dis. 2016 Sep; 75: 1599-606.
• Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D’Alessandro LC, Morris SA, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Popoola M, Wadhwa L, Brook JD, Bu’Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet. 2016 Jun 1; 25: 2331-2341.
• Cancer Genome Atlas Network.. Genomic Classification of Cutaneous Melanoma. Cell. 2015 Jun 18; 161: 1681-96.
• Duncan FJ, Naughton BJ, Zaraspe K, Murrey DA, Meadows AS, Clark KR, Newsom DE, White P, Fu H, McCarty DM. Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice. Mol Ther. 2015 Apr; 23: 638-47.
• Naughton BJ, Duncan FJ, Murrey DA, Meadows AS, Newsom DE, Stoicea N, White P, Scharre DW, Mccarty DM, Fu H. Blood genome-wide transcriptional profiles reflect broad molecular impairments and strong blood-brain links in Alzheimer’s disease. J Alzheimers Dis. 2015; 43: 93-108.
• Kelly BJ, Fitch JR, Hu Y, Corsmeier DJ, Zhong H, Wetzel AN, Nordquist RD, Newsom DL, White P. Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics. Genome Biol. 2015 Jan 20; 16: 6.
• Bonachea EM, Zender G, White P, Corsmeier D, Newsom D, Fitzgerald-Butt S, Garg V, McBride KL. Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve. BMC Med Genomics. 2014 Sep 26; 7: 56.
• Elgamal S, Katz A, Hersch SJ, Newsom D, White P, Navarre WW, Ibba M. EF-P dependent pauses integrate proximal and distal signals during translation. PLoS Genet. 2014 Aug; 10: e1004553.
• Ali MM, Newsom DL, González JF, Sabag-Daigle A, Stahl C, Steidley B, Dubena J, Dyszel JL, Smith JN, Dieye Y, Arsenescu R, Boyaka PN, Krakowka S, Romeo T, Behrman EJ, White P, Ahmer BM. Fructose-asparagine is a primary nutrient during growth of Salmonella in the inflamed intestine. PLoS Pathog. 2014 Jun; 10: e1004209.
• Jones CJ, Newsom D, Kelly B, Irie Y, Jennings LK, Xu B, Limoli DH, Harrison JJ, Parsek MR, White P, Wozniak DJ. ChIP-Seq and RNA-Seq reveal an AmrZ-mediated mechanism for cyclic di-GMP synthesis and biofilm development by Pseudomonas aeruginosa. PLoS Pathog. 2014 Mar; 10: e1003984.
• Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzynski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrecic L, Palandacic A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15: R53.
• Santana EA, Harrison A, Zhang X, Baker BD, Kelly BJ, White P, Liu Y, Munson RS Jr. HrrF is the Fur-regulated small RNA in nontypeable Haemophilus influenzae. PLoS One. 2014; 9: e105644.

Education

Graduate School

University of Cambridge

Date Completed: 06/30/1998

Undergraduate School

Brunel University

Date Completed: 06/30/1994

Education

Graduate School

University of Cambridge

Date Completed: 06/30/1998

Undergraduate School

Brunel University

Date Completed: 06/30/1994

Education

Graduate School

University of Cambridge

Date Completed: 06/30/1998

Undergraduate School

Brunel University

Date Completed: 06/30/1994

Graduate School

University of Cambridge

Date Completed: 06/30/1998

Undergraduate School

Brunel University

Date Completed: 06/30/1994

Graduate School

University of Cambridge

Date Completed: 06/30/1998

Undergraduate School

Brunel University

Date Completed: 06/30/1994

Clinical Interests

Congenital Heart Disease Rare Genetic Disease

Clinical Interests

Congenital Heart Disease Rare Genetic Disease

Clinical Interests

Congenital Heart Disease Rare Genetic Disease

Congenital Heart Disease Rare Genetic Disease

• Congenital Heart Disease
• Rare Genetic Disease

Professional Experience

2016 - Present Nationwide Children’s Hospital, Senior Director, Computational Genomics Group, IGM2016 - Present Nationwide Children’s Hospital Institute for Genomic Medicine - Computational Genomics Group, Senior Director2014 - Present GenomeNext LLC, Chief Scientific Officer2008 - Present The Research Institute at Nationwide Children’s Hospital, Principal Investigator

Professional Experience

2016 - Present Nationwide Children’s Hospital, Senior Director, Computational Genomics Group, IGM2016 - Present Nationwide Children’s Hospital Institute for Genomic Medicine - Computational Genomics Group, Senior Director2014 - Present GenomeNext LLC, Chief Scientific Officer2008 - Present The Research Institute at Nationwide Children’s Hospital, Principal Investigator

Professional Experience

2016 - Present Nationwide Children’s Hospital, Senior Director, Computational Genomics Group, IGM2016 - Present Nationwide Children’s Hospital Institute for Genomic Medicine - Computational Genomics Group, Senior Director2014 - Present GenomeNext LLC, Chief Scientific Officer2008 - Present The Research Institute at Nationwide Children’s Hospital, Principal Investigator

2016 - Present Nationwide Children’s Hospital, Senior Director, Computational Genomics Group, IGM2016 - Present Nationwide Children’s Hospital Institute for Genomic Medicine - Computational Genomics Group, Senior Director2014 - Present GenomeNext LLC, Chief Scientific Officer2008 - Present The Research Institute at Nationwide Children’s Hospital, Principal Investigator

2016 - Present Nationwide Children’s Hospital, Senior Director, Computational Genomics Group, IGM

Contact Information

Institute for Genomic Medicine

Call us at: (614) 355-2671

Fax us at: (614) 355-8633

                    The Research Institute at Nationwide Children's Hospital575 Children's CrossroadsColumbus, OH 43205 (map)

Contact Information

Institute for Genomic Medicine

Call us at: (614) 355-2671

Fax us at: (614) 355-8633

                    The Research Institute at Nationwide Children's Hospital575 Children's CrossroadsColumbus, OH 43205 (map)

Contact Information

Institute for Genomic Medicine

Call us at: (614) 355-2671

Fax us at: (614) 355-8633

                    The Research Institute at Nationwide Children's Hospital575 Children's CrossroadsColumbus, OH 43205 (map)

Institute for Genomic Medicine

Call us at: (614) 355-2671

Fax us at: (614) 355-8633

                    The Research Institute at Nationwide Children's Hospital575 Children's CrossroadsColumbus, OH 43205 (map)

Call us at: (614) 355-2671

Fax us at: (614) 355-8633

                    The Research Institute at Nationwide Children's Hospital575 Children's CrossroadsColumbus, OH 43205 (map)

Call us at: (614) 355-2671

Fax us at: (614) 355-8633

                    The Research Institute at Nationwide Children's Hospital575 Children's CrossroadsColumbus, OH 43205 (map)

• Call us at:
• (614) 355-2671
• Fax us at:
• (614) 355-8633
• The Research Institute at Nationwide Children’s Hospital575 Children’s CrossroadsColumbus, OH 43205 (map)