Marylyn D Ritchie, PhD
Edward Rose, M.D. and Elizabeth Kirk Rose, M.D. Professor
Director, Institute for Biomedical Informatics, University of Pennsylvania, Perelman School of Medicine, University of Pennsylvania
Vice President for Research Informatics, University of Pennsylvania Health System
Director, Division of Informatics, Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania, Perelman School of Medicine
Vice Dean of Artificial Intelligence and Computing, University of Pennsylvania, Perelman School of Medicine
Department: Genetics
Graduate Group Affiliations
Contact information
A301 Richards Building
3700 Hamilton Walk
Philadelphia, PA 19104
3700 Hamilton Walk
Philadelphia, PA 19104
Office: 215-573-2438
Education:
BS (Biology)
University of Pittsburgh at Johnstown, 1999.
MS (Applied Statistics)
Vanderbilt University, 2002.
PhD (Statistical Genetics)
Vanderbilt University, 2004.
Permanent linkBS (Biology)
University of Pittsburgh at Johnstown, 1999.
MS (Applied Statistics)
Vanderbilt University, 2002.
PhD (Statistical Genetics)
Vanderbilt University, 2004.
Description of Research Expertise
Computational GenomicsBioinformatics
Epistasis
Pharmacogenomics
Big Data
Evolutionary Computation
Genetic Epidemiology
Statistical Genetics
Systems Genomics
Computational Biology
Translational Informatics
Cardiovascular Disease
Selected Publications
Yang G, González P, Moneró M, Carrasquillo K, Renta JY, Hernandez-Suarez DF, Botton MR, Melin K, Scott SA, Ruaño G, Roche-Lima A, Alarcon C, Ritchie MD, Perera MA, Duconge J.: Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics. NPJ Genom Med 10: 20, Mar 2025.Jin J, Li B, Wang X, Yang X, Li Y, Wang R, Ye C, Shu J, Fan Z, Xue F, Ge T, Ritchie MD, Pasaniuc B, Wojcik G, Zhao B.: PennPRS: a centralized cloud computing platform for efficient polygenic risk score training in precision medicine. medRxiv Feb 2025.
Liu H, Abedini A, Ha E, Ma Z, Sheng X, Dumoulin B, Qiu C, Aranyi T, Li S, Dittrich N, Chen HC, Tao R, Tarng DC, Hsieh FJ, Chen SA, Yang SF, Lee MY, Kwok PY, Wu JY, Chen CH, Khan A, Limdi NA, Wei WQ, Walunas TL, Karlson EW, Kenny EE, Luo Y, Kottyan L, Connolly JJ, Jarvik GP, Weng C, Shang N, Cole JB, Mercader JM, Mandla R, Majarian TD, Florez JC, Haas ME, Lotta LA; Regeneron Genetics Center‡; GHS-RGC DiscovEHR Collaboration§; Drivas TG; Penn Medicine BioBank¶; Vy HMT, Nadkarni GN, Wiley LK, Wilson MP, Gignoux CR, Rasheed H, Thomas LF, Åsvold BO, Brumpton BM, Hallan SI, Hveem K, Zheng J, Hellwege JN, Zawistowski M, Zöllner S, Franceschini N, Hu H, Zhou J, Kiryluk K, Ritchie MD, Palmer M, Edwards TL, Voight BF, Hung AM, Susztak K; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration; Penn Medicine BioBank.: Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants. Science 387: eadp4753, Feb 2025.
Abramowitz SA, Boulier K, Keat K, Cardone KM, Shivakumar M, DePaolo J, Judy R, Bermudez F, Mimouni N, Neylan C, Kim D, Rader DJ, Ritchie MD, Voight BF, Pasaniuc B, Levin MG, Damrauer SM; Penn Medicine BioBank.: Evaluating Performance and Agreement of Coronary Heart Disease Polygenic Risk Scores. JAMA 333: 60-70, Jan 2025.
Gong L, Klein CJ, Caudle KE, Moyer AM, Scott SA, Whirl-Carrillo M, Klein TE; ClinGen Pharmacogenomics Working Group (PGxWG).: Integrating Pharmacogenomics into the Broader Construct of Genomic Medicine: Efforts by the ClinGen Pharmacogenomics Working Group (PGxWG). Clin Chem 71: 36-44, Jan 2025.
Barekat K, Ricciotti E, Ghosh S, Herrmann C, Keat K, Assenmacher CA, Tanes C, Wilson N, Sengupta A, Das US, Joshi R, Ritchie MD, Bittinger K, Weljie A, Cadwell K, Bushman FD, Wu GD, FitzGerald GA.: Concomitant suppression of COX-1 and COX-2 is insufficient to induce enteropathy associated with chronic NSAID use. bioRxiv Jan 2025.
Powers J, Wachtel H, Trujillo E, Desai H, Hausler R, Conway L, Wubbenhorst B; Penn Medicine BioBank; Regeneron Genetics Center; Domchek SM, Nathanson KL, Maxwell KN.: Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk. Genet Med 2025.
Jones SC, Cardone KM, Bradford Y, Tishkoff SA, Ritchie MD.: The Impact of Ancestry on Genome-Wide Association Studies. Pac Symp Biocomput 2025.
Orlenko A, Venkatesan M, Shen L, Ritchie MD, Wang ZP, Obafemi-Ajayi T, Moore JH.: Biologically Enhanced Machine Learning Model to uncover Novel Gene-Drug Targets for Alzheimer's Disease. Pac Symp Biocomput 2025.
Kumar R, Venkatesh R, Zhang DY, Klein TE, Ritchie MD.: A Comprehensive Bibliometric Analysis: Celebrating the Thirtieth Anniversary of the Pacific Symposium on Biocomputing. Pac Symp Biocomput 2025.