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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Detalles Bibliográficos
Autores principales: Kircher, Martin, Witten, Daniela M., Jain, Preti, O’Roak, Brian J., Cooper, Gregory M., Shendure, Jay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992975/
https://www.ncbi.nlm.nih.gov/pubmed/24487276
http://dx.doi.org/10.1038/ng.2892

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992975/
https://www.ncbi.nlm.nih.gov/pubmed/24487276
http://dx.doi.org/10.1038/ng.2892

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