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Medical and Population Genetics Program

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

Arriaga TM, Mendez R, Ungar RA, et al. Transcriptome-wide outlier approach identifies individuals with minor spliceopathies. American journal of human genetics. 2025. doi:10.1016/j.ajhg.2025.08.018

Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects.

Karczewski K, Gupta R, Kanai M, et al. Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects. Nature genetics. 2025. doi:10.1038/s41588-025-02335-7

Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction.

Small AM, Yang TY, Itoh S, et al. Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction. Nature genetics. 2025. doi:10.1038/s41588-025-02417-6

The evolution of hominin bipedalism in two steps.

Senevirathne G, Fernandopulle SC, Richard D, et al. The evolution of hominin bipedalism in two steps. Nature. 2025. doi:10.1038/s41586-025-09399-9

Reproducible single-cell annotation of programs underlying T cell subsets, activation states and functions.

Kotliar D, Curtis M, Agnew R, et al. Reproducible single-cell annotation of programs underlying T cell subsets, activation states and functions. Nature methods. 2025. doi:10.1038/s41592-025-02793-1

Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs.

Bizzotto S, Talukdar M, Stronge EA, et al. Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs. Proceedings of the National Academy of Sciences of the United States of America. 2025;122(29):e2509622122. doi:10.1073/pnas.2509622122

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J, Tran D, Xue L, et al. Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy. Nature genetics. 2025. doi:10.1038/s41588-025-02250-x

The Vodka Trial: Clinical and Genetic Characteristics of Alcohol Responsiveness in Laryngeal Dystonia.

O’Flynn LC, Domingo A, Sichani AH, et al. The Vodka Trial: Clinical and Genetic Characteristics of Alcohol Responsiveness in Laryngeal Dystonia. Movement disorders clinical practice. 2025. doi:10.1002/mdc3.70097

Genome-wide association study of varenicline-aided smoking cessation.

Coley K, Wang Q, Packer R, et al. Genome-wide association study of varenicline-aided smoking cessation. Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco. 2025. doi:10.1093/ntr/ntaf009

Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.

Kany S, Rämö JT, Hou C, et al. Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk. Nature genetics. 2025. doi:10.1038/s41588-025-02397-7