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Publications

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.

Gudmundsson S, Singer-Berk M, Stenton SL, et al. Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. Nature communications. 2025;16(1):9623. doi:10.1038/s41467-025-61698-x

IL-12-releasing nanoparticles for effective immunotherapy of metastatic ovarian cancer.

Pires IS, Covarrubias G, Gomerdinger VF, et al. IL-12-releasing nanoparticles for effective immunotherapy of metastatic ovarian cancer. Nature materials. 2025. doi:10.1038/s41563-025-02390-9

An African ancestry-specific nonsense variant in CD36 is associated with a higher risk of dilated cardiomyopathy.

Huffman JE, Gaziano L, Sayed ZRA, et al. An African ancestry-specific nonsense variant in CD36 is associated with a higher risk of dilated cardiomyopathy. Nature genetics. 2025. doi:10.1038/s41588-025-02372-2

Lysine-specific histone demethylase complex restricts Epstein-Barr virus lytic reactivation.

Liao Y, Yan J, Kong IY, et al. Lysine-specific histone demethylase complex restricts Epstein-Barr virus lytic reactivation. Nature microbiology. 2025. doi:10.1038/s41564-025-02165-7

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.

Curtis SW, Yang C, Sanchis-Juan A, et al. Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans. Human molecular genetics. 2025. doi:10.1093/hmg/ddaf163

insilicoSV: a flexible grammar-based framework for structural variant simulation and placement.

Battistella E, Jiang N, Rohlicek C, Shlyakhter I, Popic V. insilicoSV: a flexible grammar-based framework for structural variant simulation and placement. Bioinformatics (Oxford, England). 2025. doi:10.1093/bioinformatics/btaf594

Multiple polygenic score approach in colorectal cancer risk prediction.

Jiang SJ, Thomas M, Rosenthal EA, et al. Multiple polygenic score approach in colorectal cancer risk prediction. Scientific reports. 2025;15(1):38006. doi:10.1038/s41598-025-21956-w

Human immunodeficiency virus and antiretroviral therapies exert distinct influences across diverse gut microbiomes.

Jabbar KS, Priya S, Xu J, et al. Human immunodeficiency virus and antiretroviral therapies exert distinct influences across diverse gut microbiomes. Nature microbiology. 2025. doi:10.1038/s41564-025-02157-7

Optimizing local control in the surgical management of bladder cancer.

Egger M, D’Andrea VD, Steiner C, et al. Optimizing local control in the surgical management of bladder cancer. Nature reviews. Urology. 2025. doi:10.1038/s41585-025-01098-4

Integrating single-cell RNA-seq datasets with substantial batch effects.

Hrovatin K, Moinfar AA, Zappia L, et al. Integrating single-cell RNA-seq datasets with substantial batch effects. BMC genomics. 2025;26(1):974. doi:10.1186/s12864-025-12126-3