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A general framework for estimating the relative pathogenicity of human genetic variants

Our capacity to sequence human genomes has exceeded our ability to interpret genetic variation. Current genomic annotations tend to exploit a single information type (e.g. conservation) and/or are restricted in scope (e.g. to missense changes). Here, we describe Combined Annotation Dependent Depleti...

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Detalhes bibliográficos
Main Authors: Kircher, Martin, Witten, Daniela M., Jain, Preti, O’Roak, Brian J., Cooper, Gregory M., Shendure, Jay
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3992975/
https://ncbi.nlm.nih.gov/pubmed/24487276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2892
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