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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

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

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

Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs.

Valencia C, Nathan A, Kang JB, Rumker L, Lee H, Raychaudhuri S. Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs. Nature genetics. 2025. doi:10.1038/s41588-025-02344-6

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

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

Long shared haplotypes identify the southern Urals as a primary source for the 10th-century Hungarians.

Gyuris B, Vyazov L, Türk A, et al. Long shared haplotypes identify the southern Urals as a primary source for the 10th-century Hungarians. Cell. 2025;188(21):6064-6078.e11. doi:10.1016/j.cell.2025.09.002

Unlocking the potential of FinnGen to advance cancer research.

Aavikko M, Liu A, Daly M. Unlocking the potential of FinnGen to advance cancer research. Nature reviews. Cancer. 2025. doi:10.1038/s41568-025-00885-w

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

Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish.

Wolford BN, Zhao QY, Wu KHH, et al. Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish. Blood advances. 2025;9(19):4850-4859. doi:10.1182/bloodadvances.2024015790