Medical and Population Genetics Program

The OurHealth Study: A digital genomic cohort for cardiometabolic risk mechanisms in US South Asians.

Ganesh S, Bhattacharya R, Bhatnagar A, et al. The OurHealth Study: A digital genomic cohort for cardiometabolic risk mechanisms in US South Asians. NPJ digital medicine. 2026. doi:10.1038/s41746-025-02335-1PubMed DOI Google Scholar

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-zPubMed DOI Google Scholar

MultiSuSiE improves multi-ancestry fine-mapping in All of Us whole-genome sequencing data.

Rossen J, Shi H, Strober BJ, et al. MultiSuSiE improves multi-ancestry fine-mapping in All of Us whole-genome sequencing data. Nature genetics. 2026. doi:10.1038/s41588-025-02450-5PubMed DOI Google Scholar

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/s41588-025-02335-7PubMed DOI Google Scholar

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.2025.08.018PubMed DOI Google Scholar

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/s41467-025-63340-2PubMed DOI Google Scholar

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/ntaf009PubMed DOI Google Scholar

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-xPubMed DOI Google Scholar

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.2509622122PubMed DOI Google Scholar

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/s41592-025-02793-1PubMed DOI Google Scholar