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Publications

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/s41588-025-02450-5

Mapping isoforms and regulatory mechanisms from spatial transcriptomics data with SPLISOSM.

Su J, Qu Y, Schertzer M, et al. Mapping isoforms and regulatory mechanisms from spatial transcriptomics data with SPLISOSM. Nature biotechnology. 2026. doi:10.1038/s41587-025-02965-6

Evaluating the Acceptability of Virtual Preventive Genetic Counseling Supporting Adult Primary Care Practices.

Hull LE, Brodney S, Regan S, et al. Evaluating the Acceptability of Virtual Preventive Genetic Counseling Supporting Adult Primary Care Practices. Journal of general internal medicine. 2026. doi:10.1007/s11606-025-10087-7

Improving spliced alignment by modeling splice sites with deep learning.

Yang S, Huang N, Li H. Improving spliced alignment by modeling splice sites with deep learning. Algorithms for molecular biology : AMB. 2026. doi:10.1186/s13015-025-00293-7

Management of transfusion-dependent β-thalassaemia in the era of novel therapies: a prioritisation-based matrix for settings with limited resources.

Musallam KM, Sheth S, Cappellini MD, et al. Management of transfusion-dependent β-thalassaemia in the era of novel therapies: a prioritisation-based matrix for settings with limited resources. The Lancet. Haematology. 2026;13(1):e49-e54. doi:10.1016/S2352-3026(25)00320-5

A breakage-replication/fusion process explains complex rearrangements and segmental DNA amplification.

Zhang CZ, Mendez-Dorantes C, Burns KH, Pellman D. A breakage-replication/fusion process explains complex rearrangements and segmental DNA amplification. Nature genetics. 2026. doi:10.1038/s41588-025-02434-5

Machine learning reveals hidden dimensions of functional similarity in proteins.

Youssef N, Gurev S, Marks DS. Machine learning reveals hidden dimensions of functional similarity in proteins. Proceedings of the National Academy of Sciences of the United States of America. 2026;123(1):e2524802122. doi:10.1073/pnas.2524802122

Single-Cell Genomics and Somatic Variation in Circulating and Cardiac Resident Cells.

Hilal N, Arava M, Choudhury S. Single-Cell Genomics and Somatic Variation in Circulating and Cardiac Resident Cells. Circulation research. 2026;138(1):e325797. doi:10.1161/CIRCRESAHA.125.325797

Decoding Vascular Cell Diversity: Single-Cell Approaches to Mechanisms of Vascular Disease.

Schwartzman WE, Jiang J, Rao JS, et al. Decoding Vascular Cell Diversity: Single-Cell Approaches to Mechanisms of Vascular Disease. Circulation research. 2026;138(1):e326001. doi:10.1161/CIRCRESAHA.125.326001

Convergence of machine learning and genomics for precision oncology.

Reardon B, Culhane AC, Van Allen EM. Convergence of machine learning and genomics for precision oncology. Nature reviews. Cancer. 2026. doi:10.1038/s41568-025-00897-6