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Medical and Population Genetics Program

Modular genetic architecture underlies human hand and foot evolution.

Okamoto AS, Senevirathne G, Muthuirulan P, et al. Modular genetic architecture underlies human hand and foot evolution. Proceedings of the National Academy of Sciences of the United States of America. 2026;123(20):e2603297123. doi:10.1073/pnas.2603297123

Genetic variation reveals a homeotic long noncoding RNA that modulates human hematopoietic stem cells.

Lyu P, Agarwal G, Guo CJ, et al. Genetic variation reveals a homeotic long noncoding RNA that modulates human hematopoietic stem cells. Cell. 2026. doi:10.1016/j.cell.2026.04.014

Development and Validation of a Clinical Polygenic Risk Report in U.S.-Based Health Systems for 8 Cardiovascular Conditions.

Misra A, Jowell A, Haidermota S, et al. Development and Validation of a Clinical Polygenic Risk Report in U.S.-Based Health Systems for 8 Cardiovascular Conditions. Journal of the American College of Cardiology. 2026. doi:10.1016/j.jacc.2026.03.035

Plasma phosphorylated tau 217 and longitudinal trajectories of Aβ, tau, and cognition in cognitively unimpaired older adults.

Yang HS, Anzai JAU, Yau WYW, et al. Plasma phosphorylated tau 217 and longitudinal trajectories of Aβ, tau, and cognition in cognitively unimpaired older adults. Nature communications. 2026;17(1). doi:10.1038/s41467-026-71269-3

Early and late RNA eQTL are driven by different genetic mechanisms.

Sakaue S, Raychaudhuri S, . Early and late RNA eQTL are driven by different genetic mechanisms. Nature communications. 2026. doi:10.1038/s41467-026-72139-8

Ancient DNA reveals pervasive directional selection across West Eurasia.

Akbari A, Perry A, Barton AR, et al. Ancient DNA reveals pervasive directional selection across West Eurasia. Nature. 2026. doi:10.1038/s41586-026-10358-1

Genomic approaches for understanding the evolution of the human brain.

Song JHT, Greenberg ME, Reich D, Walsh CA. Genomic approaches for understanding the evolution of the human brain. Nature neuroscience. 2026. doi:10.1038/s41593-026-02277-1

Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy.

Nakayama T, Achkar CME, Burbano LE, et al. Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy. Nature medicine. 2026. doi:10.1038/s41591-026-04314-9

Towards scalable biomarker discovery in posttraumatic stress disorder: triangulating genomic and phenotypic evidence from a health system biobank.

Lee YH, Zhang Y, Dice ALE, et al. Towards scalable biomarker discovery in posttraumatic stress disorder: triangulating genomic and phenotypic evidence from a health system biobank. Molecular psychiatry. 2026. doi:10.1038/s41380-026-03553-z

Blood Pressure Genetic Risk and Incident Hypertension at 2 to 7 Years Post Partum.

Hemeryck J, De Moor N, Ezzat D, et al. Blood Pressure Genetic Risk and Incident Hypertension at 2 to 7 Years Post Partum. JAMA cardiology. 2026. doi:10.1001/jamacardio.2026.0363