Peter S. White, PhD

Director, Division of Biomedical Informatics

Academic Affiliation

Professor, UC Department of Biomedical Informatics

Phone 513-803-4172


Bioinformatics; biomedical informatics; genome informatics

Peter S. White, PhD, serves as the director of the Division of Biomedical Informatics at Cincinnati Children’s Hospital Medical Center and as the Rieveschl Chair of the Department of Biomedical Informatics at the University of Cincinnati (UC) College of Medicine. He oversees informatics research and resources at both institutions, including academic, research, and collaborative service missions. He also serves as co-director of Cincinnati Children’s Center for Pediatric Genomics.

In his research career, White has explored the development and application of novel approaches for disease gene discovery. He has developed innovative approaches for integrating and disseminating clinical, phenotypic, and molecular data to researchers for promoting discovery and hypothesis validation. He is currently playing a lead informatics role on a number of national data projects. White came to Cincinnati Children’s from the Children’s Hospital of Philadelphia, where he launched the Research Institute’s Center for Biomedical Informatics in 2006 and oversaw that center’s expansion in genome analysis. He has an undergraduate degree in biology and received a PhD in Molecular Genetics at Washington University in St. Louis in 1992. 

PhD: Washington University, St. Louis, MO, 1993.

View PubMed Publications

Li MH, Abrudan JL, Dulik MC, Sasson A, Brunton J, Jayaraman V, Dugan N, Haley D, Rajagopalan R, Biswas S, Sarmady M, DeChene ET, Deardorff MA, Wilkens A, Noon SE, Scarano MI, Santani AB, White PS, Pennington J, Conlin LK, Spinner NB, Krantz ID, Vetter VL. Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. Hum Genomics. 2015 Jul 19;9:15.

Glessner J, Bick A, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma S, Golhar R, Sanders S, Yamrom B, Ronemus M, Iossifov I, Willsey A, State M, Kaltman J, White P, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb B, Lifton R, Seidman J, Hakonarson H, Chung W. Increased frequency of de novo copy number variations in congenital heart Disease by integrative analysis of SNP array and exome sequence data. Circ Res. 2014;115:884-896.

White PS, Xie HM, Werner P, Glessner J, Latney B, Hakonarson H, Goldmuntz E. Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions. Birth Defects Res A Clin Mol Teratol. 2014;100:951-965.

Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, Robinson PN, White PS. Clinical phenotype-based gene prioritization: An initial study using semantic similarity and the Human Phenotype Ontology. BMC Bioinformatics. 2014 Jul 21;15:248.

D’Alessandro LCA, Werner P, Xie HM, Hakonarson H, White PS, Goldmuntz E. The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions. Congenit Heart Dis. 2014; 9:83-86.

Pennington JW, Ruth B, Italia MJ, Miller J, White PS. Harvest. A Web-based biomedical data discovery and reporting application development platform. J Am Med Inform Assoc. 2014; 21:379-383.

Tarczy-Hornoch P, Amendola L, Aronson SJ, Garraway L, Gray S, Grundmeier RW, Hindorff LA, Jarvik G, Karavite D, Lebo M, Plon SE, Van Allen E, Weck KE, White PS, Yang Y. A survey of informatics approaches to whole exome and whole genome clinical reporting in the electronic medical record. Genet Med. 2013; 15:824-834.

Zhang Z, Leipzig J, Sasson A, Perin JC, Xie M, Sarmady M, Warren P, White P. Efficient digest of high-throughput sequencing data in a reproducible report. BMC Bioinformatics. 2013; 14 (Suppl 11):S3.

Tropeano M, Ahn JW, Dobson RJ, Breen G, Rucker J, Dixit A, Pal DK, McGuffin P, Farmer A, White PS, Andrieux J, Vassos E, Ogilvie CM, Curran S, Collier DA. Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. PLOS One. 2013; 8:e61365.

Zaidi S, Choi M, Wakimoto H, Ma L, Jianming J, Overton JD, Bjornson RD, Breitbart R, Carriero NJ, Cheung YH, Deanfield J, Glessner J, Hakonarson H, Italia M, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Alexander Lopez, Mane SM, Mitchell LE, Newburger J, Pe'er I, Porter G, Roberts A, Sachidanandam R, Sanders S, Seiden HS, State M, Subramanian S, Tikhonova IR, Warburton D, Wei Z, White PS, Williams IA, Zhao H, Seidman J, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP. Increased frequency of de novo mutations in histone modifying genes in congenital heart disease. Nature. 2013; 498:220–223.

NHLBI Pediatric Translational Consortium Administrative Coordinating Center. Co-Principal Investigator. National Heart, Lung, and Blood Institute (NHLBI)/ National Institutes of Health (NIH). Nov 2015-Oct 2020.

Newborn Screening Translational Research Network Data Coordinating Center. Principal Investigator. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NIH). Sep 2013-Sep 2018.