DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features

Despite the increasing use of genomic sequencing in clinical practice, the interpretation of rare genetic variants remains challenging even in well-studied disease genes, resulting in many patients with Variants of Uncertain Significance (VUSs). Computational Variant Effect Predictors (VEPs) provide...

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Detalles Bibliográficos
Autores principales: Luppino, Federica, Adzhubei, Ivan A., Cassa, Christopher A., Toth-Petroczy, Agnes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115847/
https://www.ncbi.nlm.nih.gov/pubmed/37076482
http://dx.doi.org/10.1038/s41467-023-37661-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115847/
https://www.ncbi.nlm.nih.gov/pubmed/37076482
http://dx.doi.org/10.1038/s41467-023-37661-z

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