Bogdan Pasaniuc, Ph.D.
Professor of Genetics
Director, Center for Computational Biomedicine, Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania
Senior Fellow, Institute of Biomedical Informatics, Perelman School of Medicine
Department: Genetics
Graduate Group Affiliations
Contact information
A306 Richards
3700 Hamilton Walk
Philadelphia, Pa 19104
3700 Hamilton Walk
Philadelphia, Pa 19104
Education:
BsC (Computer Science, “A. I. Cuza” )
University of Iasi, Romania, 2003.
PhD (Computer Science and Bioinformatics)
University of Connecticut, 2008.
Permanent linkBsC (Computer Science, “A. I. Cuza” )
University of Iasi, Romania, 2003.
PhD (Computer Science and Bioinformatics)
University of Connecticut, 2008.
Description of Research Expertise
Dr Pasaniuc develops statistical and computational methods to understand the genetic basis of disease, focusing on under- represented populations, integrative genomics, and biobank studies. Dr Pasaniuc is interested in innovative ML/AI methods to integrate genetics with multi-omic profiles (e.g., epigenetic/transcriptomic) and electronic health records to identify causal genes and pathways for human diseases. Dr Pasaniuc introduced transcriptome-wide association studies (TWAS) using predicted gene expression as a principled approach to identify disease genes for many traits such as Schizophrenia, Ovarian Cancer and Prostate Cancer.His main research interest is in precision health using genomics to predict health outcomes; to stratify patients based on their genetic profiles; to identify undiagnosed rare diseases; and to translate computational algorithms to the clinic.
Dr Pasaniuc is heavily invested in training the next generation of genomic and biomedical scientists, serving as PI of various NIH-funded training programs such as the NIH/NLM-T15 training program Biomedical Data Science Training Program for Precision Health Equity at UCLA.
Selected Publications
Ding Y, Hou K, Xu Z, Pimplaskar A, Petter E, Boulier K, Privé F, Vilhjálmsson BJ, Olde Loohuis LM, Pasaniuc B.: Polygenic scoring accuracy varies across the genetic ancestry continuum. Nature 618(7966), Jun 2023.Hou K, Ding Y, Xu Z, Wu Y, Bhattacharya A, Mester R, Belbin GM, Buyske S, Conti DV, Darst BF, Fornage M, Gignoux C, Guo X, Haiman C, Kenny EE, Kim M, Kooperberg C, Lange L, Manichaikul A, North KE, Peters U, Rasmussen-Torvik LJ, Rich SS, Rotter JI, Wheeler HE, Wojcik GL, Zhou Y, Sankararaman S, Pasaniuc B.: Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals. Nat Genet 55(4): 549-558, Apr 2023.
Johnson R, Stephens AV, Mester R, Knyazev S, Kohn LA, Freund MK, Bondhus L, Hill BL, Schwarz T, Zaitlen N, Arboleda VA, A Bastarache L, Pasaniuc B* Butte MJ*: Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease. Sci Transl Med 16(745), May 2024 Notes: 10.1126/scitranslmed.ade4510.
Ding Y, Hou K, Burch KS, Lapinska S, Privé F, Vilhjálmsson B, Sankararaman S, Pasaniuc B.: Large uncertainty in individual polygenic risk score estimation impacts PRS-based risk stratification. Nat Genet 54(1), Dec 2022.
Zhang MJ, Hou K, Dey KK, Sakaue S, Jagadeesh KA, Weinand K, Taychameekiatchai A, Rao P, Pisco AO, Zou J, Wang B, Gandal M, Raychaudhuri S, Pasaniuc B, Price AL.: Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data. Nat Genet 54: 1572–1580, Sept 2022.
Hou K, Bhattacharya A, Mester R, Burch KS, Pasaniuc B.: On powerful GWAS in admixed populations. Nat Genet 53(12): 1631-1633, Dec 2021.
Mancuso N, Freund MK, Johnson R, Shi H, Kichaev G, Gusev A, Pasaniuc B.: Probabilistic fine-mapping of transcriptome-wide association studies. Nat Genet 51(4): 675-682, Apr 2019.
Gusev A, Ko A, Shi H, Bhatia G, Chung W, Penninx BW, Jansen R, de Geus EJ, Boomsma DI, Wright FA, Sullivan PF, Nikkola E, Alvarez M, Civelek M, Lusis AJ, Lehtimäki T, Raitoharju E, Kähönen M, Seppälä I, Raitakari OT, Kuusisto J, Laakso M, Price AL, Pajukanta P, Pasaniuc B.: Integrative approaches for large-scale transcriptome-wide association studies. Nat Genet 48(3): 245-52, Feb 2016.
Hou K, Xu Z, Ding Y, Mandla R, Shi Z, Boulier K, Harpak A, Pasaniuc B: Calibrated prediction intervals for polygenic scores across diverse contexts. Nat Genet 56(7): 1386-1396, Jul 2024.
Johnson R, Ding Y, Bhattacharya A, Knyazev S, Chiu A, Lajonchere C, Geschwind DH, Pasaniuc B.: The UCLA ATLAS Community Health Initiative: Promoting precision health research in a diverse biobank. Cell Genom 3(1): 100243, Jan 2023.
Hou K, Burch KS, Majumdar A, Shi H, Mancuso N, Wu Y, Sankararaman S, Pasaniuc B.: Accurate estimation of SNP-heritability from biobank-scale data irrespective of genetic architecture. Nat Genet 51(8): 1244-1251, Aug 2019.