Department of Pathology

Preti Jain, PhD, FACMG

Associate Professor-Clinical

portrait of Preti Jain, PhD, FACMG
  • Office Location:
  • Innovation Centre
  • 2001 Polaris Parkway, Room 2046
  • Columbus, OH 43240

Biosketch

Dr. Preti Jain, PhD, FACMG, is a Clinical Bioinformatics Director of Molecular Pathology and an Associate Professor in the Department of Pathology at The Ohio State University, Wexner Medical Center (OSUWMC). Dr. Preti Jain is board certified in molecular and cytogenetics. She finished her clinical molecular genetics fellowship from Columbia University and laboratory genetics and genomics (cytogenetics) from Yale University. She specializes in somatic and hereditary cancers, rare hereditary diseases, bioinformatics, process improvement, and operational efficiency.

Dr. Jain’s research is focused on developing methods tailored for investigating the genetic origins of cancers and neurological diseases. She leverages cutting-edge methods to sift through vast genomic information and identify insights contributing to our understanding of complex disorders.

Board Certifications

Clinical Molecular Genetics - ABMGG

Laboratory Genetics and Genomics - LGG

Academic and Medical Appointments

2025-Present Clinical Bioinformatics Director, Associate Professor, Department of Pathology, OSUWMC, Columbus, OH

2021-2025 Laboratory Director, SEMA4/GeneDx

2017-2021 Associate Laboratory Director, Department of genetics, Yale University

Education and Training

2019-2020 Fellowship, LGG, Yale University, New Haven, CT

2014-2016 Fellowship, Clinical Molecular Genetics, Columbia University, New York

2009-2013 Postdoctoc, HudsonAlpha Institute For BioTechnology, Huntsville, AL

2005-2009 Ph.D., University of Alabama In Huntsville, AL

Selected Publications

Search in PubMed

  • Kayser M, Jain P, Bale A, Carpenter TO. A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia. JCEM Case Rep. 2023 Oct 19;1(5):luad082. doi: 10.1210/jcemcr/luad082. eCollection 2023 Sep. PMID: 37908207
  • Werner KM, Cox AJ, Qian E, Jain P, Ji W, …, Gruen JR, Bale A, Zhang H. D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. Am J Med Genet A. 2022, 188(1), 357-363.
  • Ouahed J, Kelsen JR, Spessott WA, Kooshesh K, Sanmillan ML, Dawany N, Sullivan KE, Hamilton KE, Slowik V, Nejentsev S, Neves JF, Flores H, Chung WK, Wilson A, Anyane-Yeboa K, Wou K, Jain P, Field M, Tollefson S, Dent MH, Li D, Naito T, McGovern DPB, Kwong AC, Taliaferro F, Ordovas-Montanes J, …., Snapper SB. Variants in STXBP3 are Associatedwith Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation. J Crohns Colitis., 2021, 8;15(11), 1908-1919.
  • Palladino SP, Helton ES, Jain P, Dong C, Crowley MR, Crossman DK, Ubogu EE. The Human Blood-Nerve Barrier Transcriptome. Sci Rep. 2017, 12;7(1):17477.
  • Wynn J, Martinez J, Bulafka J, Duong J, Zhang Y, Chiuzan C, Preti J, …., Appelbaum PS, Chung WK. Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study. J Genet Couns. 2017 Nov 22.
  • Di Napoli A, Jain P, Duranti E, …., Mansukhani M, Bhagat G. Targeted next generation sequencing of breast implant-associated anaplastic large cell lymphoma reveals mutations in JAK/STAT signalling pathway genes, TP53 and DNMT3A. Br J Haematol. 2016 Nov 10.
  • Margolskee E, Jobanputra V, Jain P, …, Mansukhani M, Bhagat G. Genetic landscape of T-and NK-cell post-transplant lymphoproliferative disorders Oncotarget. 2016 Jun 21;7(25):37636-37648.
  • Glasser CL, Picoraro J, Jain P, Kinberg S, Rustia E, Margolis KG, Anyane-Yeboa K, Iglesias A, Green NS. Phenotypic heterogeneity of neutropenia and gastrointestinal illness associated with G6PC3 founder mutation. J Pediatr Hematol Oncol. 2016 Oct;38(7):e243-7.
  • Ganapathi KA, Jobanputra V, Iwamoto F, Jain P, …. Mansukhani MM*, and Bhagat G*. The genetic landscape of dural marginal zone lymphomas. Oncotarget. 2016 Jul 12;7(28):43052-43061.
  • Farlow J, Robak L, Hetrick K, … Jain P, … Myers RM, Shulman J, Foroud T. Whole exome sequencing identifies candidate genes for Parkinson's disease. JAMA Neurol. 2016 Jan;73(1):68-75.
  • Karaca E, Harel T, Pehlivan D, … Jain P, … Chung WK, Gibbs RA, Lupski JR. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease., Neuron., 2015, 88(3):499-513
  • Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nature Genetics 2014, 46, 310–315
  • Savic D, Gertz J, Jain P, Cooper GM, Myers RM. Mapping genome-wide transcription factor binding sites in frozen tissues. Epigenetics Chromatin. 2013, 16;6(1):30
  • Gertz J, Varley KE, Partridge EC, Safi A, Jain P, Cooper GM, Reddy TE, Crawford GE, Myers RM. Distinct properties of cell type-specific and shared transcription factor binding sites. Mol Cell. 2013, 10;52(1):25-36.
  • Ciofani M, Madar A, Galan C, … Jain P, … Myers RM, Bonneau R, Littman DR. A validated regulatory network for th17 cell specification. Cell. 2012, 151(2), 289-303.
  • ENCODE Project Consortium, Dunham I, Kundaje A, Aldred SF, … Jain P, …. Yan KK, Yip KY, Birney E. An Integrated Encyclopedia of DNA Elements in the Human Genome. Nature, 2012, 489(7414), 57-74
  • Gerstein MB, Kundaje A, Hariharan M, … Jain P … Myers RM, Weissman SM, Snyder M. Architecture of the human regulatory network derived from ENCODE data. Nature, 2012, 489(7414), 91-100
  • ENCODE Project Consortium, Myers RM, Stamatoyannopoulos J, Snyder M … Jain P …. Good PJ, Harrow J, Searle S. A user's guide to the encyclopedia of DNA elements (ENCODE). PLoS Biol. 2011, 9(4): e1001046.
  • Pandey AK, Jain P, Podila GK, Tudzynski B, Davis MR. Cold induced Botrytis cinerea enolase (BcEnol-1) functions as a transcriptional regulator and is controlled by cAMP. Mol Genet Genomics. 2009, 281(2), 135-146
  • Martin F, Aerts A, Ahrén D, … Jain P … Tunlid A, Tuskan G, Grigoriev IV. The genome of Laccaria bicolor provides insights into mycorrhizal symbiosis. Nature. 2008, 452, 88-92.J