
Dr. Marylyn Ritchie is Professor in the Department of Biochemistry and Molecular Biology and Director, Center for Systems Genomics at the Pennsylvania State University. Dr. Ritchie is also Director of the new Biomedical and Translational Informatics at Geisinger Clinic. Dr. Ritchie’s research interests as a statistical geneticist include the development and application of novel statistical and computational methods to identify genetic variants associated with human diseases. Dr. Ritchie’s lab places a special emphasis on the development of methods to detect gene-gene interactions, gene-environment interactions, and network/pathway effects associated with disease. Dr. Ritchie has extensive experience in Big Data science and the use of electronic health records in genomic research. Dr. Ritchie has been the electronic MEdical Records & GEnomics (eMERGE) Coordinating Center genomics lead for the past eight years. Dr. Ritchie’s other accomplishments include being named Genome Technology’s “Rising Young Investigator” (2006), a Sloan Research Fellow (2010), and a Kavli Frontiers in Sciences fellow by the National Academy of Science (2011-2014). Dr. Ritchie was most recently named Thomas Reuters Most Highly Cited Researchers in 2014.
Recent Publications
- Yang, G, González, P, Moneró, M, Carrasquillo, K, Renta, JY, Hernandez-Suarez, DF, Botton, MR, Melin, K, Scott, SA, Ruaño, G et al.. Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics. NPJ Genom Med 2025; 10 (1): 20. PubMed PMID:40055373 PubMed Central PMC11889249.
- Jin, J, Li, B, Wang, X, Yang, X, Li, Y, Wang, R, Ye, C, Shu, J, Fan, Z, Xue, F et al.. PennPRS: a centralized cloud computing platform for efficient polygenic risk score training in precision medicine. medRxiv 2025; : . PubMed PMID:39990574 PubMed Central PMC11844566.
- Liu, H, Abedini, A, Ha, E, Ma, Z, Sheng, X, Dumoulin, B, Qiu, C, Aranyi, T, Li, S, Dittrich, N et al.. Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants. Science 2025; 387 (6734): eadp4753. PubMed PMID:39913582 .
- Wade, AN, Guare, L, Hayat, M, Straub, P, Gao, Z, Medici, M, Teumer, A, Davis, LK, Ramsay, M, Ritchie, MD et al.. Strength of Genetic Associations with Thyrotropin Values Differs Between Populations with Similarity to African and European Reference Populations. Thyroid 2025; 35 (2): 131-142. PubMed PMID:39869013 .
- Hui, D, Dudek, S, Kiryluk, K, Walunas, TL, Kullo, IJ, Wei, WQ, Tiwari, H, Peterson, JF, Chung, WK, Davis, BH et al.. Risk factors affecting polygenic score performance across diverse cohorts. Elife 2025; 12 : . PubMed PMID:39851248 PubMed Central PMC11771958.
- Moore, A, Ritchie, MD. Is the Relationship Between Cardiovascular Disease and Alzheimer's Disease Genetic? A Scoping Review. Genes (Basel) 2024; 15 (12): . PubMed PMID:39766777 PubMed Central PMC11675426.
- 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 2025; 71 (1): 36-44. PubMed PMID:39749515 .
- Basile, AO, Verma, A, Tang, LA, Serper, M, Scanga, A, Farrell, A, Destin, B, Carr, RM, Anyanwu-Ofili, A, Rajagopal, G et al.. Rapid identification and phenotyping of nonalcoholic fatty liver disease patients using a machine-based approach in diverse healthcare systems. Clin Transl Sci 2025; 18 (1): e70105. PubMed PMID:39739635 PubMed Central PMC11686338.
- Kember, RL, Verma, SS, Verma, A, Xiao, B, Lucas, A, Kripke, CM, Judy, R, Chen, J, Damrauer, SM, Rader, DJ et al.. Polygenic risk scores for cardiometabolic traits demonstrate importance of ancestry for predictive precision medicine. Pac Symp Biocomput 2025; 30 : 748-765. PubMed PMID:39670412 .
- Garao Rico, AL, Palmiero, N, Ritchie, MD, Hall, MA. Integrated exposomic analysis of lipid phenotypes: Leveraging GE.db in environment by environment interaction studies. Pac Symp Biocomput 2025; 30 : 535-550. PubMed PMID:39670394 PubMed Central PMC11694901.