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Medical and Population Genetics Program

Insights into DNA repeat expansions among 900,000 biobank participants.

Hujoel MLA, Handsaker RE, Tang D, et al. Insights into DNA repeat expansions among 900,000 biobank participants. Nature. 2026. doi:10.1038/s41586-025-09886-z

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

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

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

Improved allele frequencies in gnomAD through local ancestry inference.

Kore P, Wilson MW, Tiao G, et al. Improved allele frequencies in gnomAD through local ancestry inference. Nature communications. 2025;16(1):8734. doi:10.1038/s41467-025-63340-2

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

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

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

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

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