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Publications

Guidelines for releasing a variant effect predictor.

Livesey BJ, Badonyi M, Dias M, et al. Guidelines for releasing a variant effect predictor. Genome biology. 2025;26(1):97. doi:10.1186/s13059-025-03572-z

Single-Cell Analyses Reveal a Functionally Heterogeneous Exhausted CD8+ T-cell Subpopulation That Is Correlated with Response to Checkpoint Therapy in Melanoma.

Mahuron KM, Shahid O, Sao P, et al. Single-Cell Analyses Reveal a Functionally Heterogeneous Exhausted CD8+ T-cell Subpopulation That Is Correlated with Response to Checkpoint Therapy in Melanoma. Cancer research. 2025;85(8):1424-1440. doi:10.1158/0008-5472.CAN-23-3918

Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.

Venkatesh SS, Wittemans LBL, Palmer DS, et al. Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum. Nature genetics. 2025. doi:10.1038/s41588-025-02156-8

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Martin-Geary AC, Blakes AJM, Dawes R, et al. Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease. Genome medicine. 2025;17(1):40. doi:10.1186/s13073-025-01464-2

Phenotypic and genetic diversity in diabetes across populations.

Deutsch AJ, Udler MS. Phenotypic and genetic diversity in diabetes across populations. The Journal of clinical endocrinology and metabolism. 2025. doi:10.1210/clinem/dgaf234

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.

McGivern B, Holling T, Sacoto MJG, et al. Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation. HGG advances. 2025:100438. doi:10.1016/j.xhgg.2025.100438

Genetic risk for open angle glaucoma subtypes is associated with specific visual field defect classes.

Sekimitsu S, Selvan K, Zhao Y, et al. Genetic risk for open angle glaucoma subtypes is associated with specific visual field defect classes. Ophthalmology. 2025. doi:10.1016/j.ophtha.2025.04.008

Associations of a multidimensional polygenic sleep health score and a sleep lifestyle index with disease outcomes and their interaction in a clinical biobank.

Paz V, Wilcox H, Goodman M, et al. Associations of a multidimensional polygenic sleep health score and a sleep lifestyle index with disease outcomes and their interaction in a clinical biobank. Sleep health. 2025. doi:10.1016/j.sleh.2025.02.009

Structural insights into RNA-guided RNA editing by the Cas13b-ADAR2 complex.

Ishikawa J, Kato K, Kannan S, et al. Structural insights into RNA-guided RNA editing by the Cas13b-ADAR2 complex. Nature structural & molecular biology. 2025. doi:10.1038/s41594-025-01529-1

A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations.

Castro NG, Gavish A, Bussema L, et al. A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations. Genome medicine. 2025;17(1):37. doi:10.1186/s13073-025-01462-4