Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

We used a machine learning approach to analyze the within-gene distribution of missense variants observed in hereditary conditions and cancer. When applied to 840 genes from the ClinVar database, this approach detected a significant non-random distribution of pathogenic and benign variants in 387 (4...

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Detalles Bibliográficos
Autores principales: Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N., Unger, Sheila, Superti-Furga, Andrea, Rivolta, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8948164/
https://www.ncbi.nlm.nih.gov/pubmed/35120630
http://dx.doi.org/10.1016/j.ajhg.2022.01.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8948164/
https://www.ncbi.nlm.nih.gov/pubmed/35120630
http://dx.doi.org/10.1016/j.ajhg.2022.01.006

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