Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain

Accurate proteome-wide missense variant effect prediction with AlphaMissense

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Life Sciences, Bioinformatics, Genetics +15

A Population-Based Study of Genes Previously Implicated in Breast Cancer

Chunling Hu, Steven N. Hart, Rohan Gnanaolivu et al. · New England Journal of Medicine · 2021 · 866 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Disease variant prediction with deep generative models of evolutionary data

Jonathan Frazer, Pascal Notin, Mafalda Dias et al. · Nature · 2021 · 839 citations

Life Sciences, Bioinformatics, Genetics +16

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Sean V. Tavtigian, Marc S. Greenblatt, Steven M. Harrison et al. · Genetics in Medicine · 2018 · 606 citations · Full text

Computing, Bioinformatics, Computer Science +14

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Vikas Pejaver, Alicia B. Byrne, Bing Feng et al. · The American Journal of Human Genetics · 2022 · 528 citations · Full text

Life Sciences, Molecular Genetics, Pathology +14