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Machine-learning of complex evolutionary signals improves classification of SNVs

Conservation is a strong predictor for the pathogenicity of single-nucleotide variants (SNVs). However, some positions that present complex conservation patterns across vertebrates stray from this paradigm. Here, we analyzed the association between complex conservation patterns and the pathogenicity...

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Detalles Bibliográficos
Autores principales:	Labes, Sapir, Stupp, Doron, Wagner, Naama, Bloch, Idit, Lotem, Michal, L. Lahad, Ephrat, Polak, Paz, Pupko, Tal, Tabach, Yuval
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Methods Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8988715/ https://www.ncbi.nlm.nih.gov/pubmed/35402908 http://dx.doi.org/10.1093/nargab/lqac025

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