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
- 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 .
- Moore, A, Venkatesh, R, Levin, MG, Damrauer, SM, Reza, N, Cappola, TP, Ritchie, MD. Connecting intermediate phenotypes to disease using multi-omics in heart failure. Pac Symp Biocomput 2025; 30 : 504-521. PubMed PMID:39670392 .
- 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; 30 : 441-456. PubMed PMID:39670388 .
- Jones, SC, Cardone, KM, Bradford, Y, Tishkoff, SA, Ritchie, MD. The Impact of Ancestry on Genome-Wide Association Studies. Pac Symp Biocomput 2025; 30 : 251-267. PubMed PMID:39670375 .
- Keat, K, Venkatesh, R, Huang, Y, Kumar, R, Tuteja, S, Sangkuhl, K, Li, B, Gong, L, Whirl-Carrillo, M, Klein, TE et al.. PGxQA: A Resource for Evaluating LLM Performance for Pharmacogenomic QA Tasks. Pac Symp Biocomput 2025; 30 : 229-246. PubMed PMID:39670373 .
- 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; 30 : 1-15. PubMed PMID:39670357 PubMed Central PMC11649015.
- Cappadocia, J, Aiello, LB, Kelley, MJ, Katona, BW, Maxwell, KN, Penn Medicine BioBank, Regeneron Genetics Center. PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients. Genet Med Open 2024; 2 : 101858. PubMed PMID:39669620 PubMed Central PMC11613782.
- Kumar, R, Romano, JD, Ritchie, MD. CASTER-DTA: Equivariant Graph Neural Networks for Predicting Drug-Target Affinity. bioRxiv 2024; : . PubMed PMID:39651302 PubMed Central PMC11623579.
