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dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs

Whole exome sequencing has been increasingly used in human disease studies. Prioritization based on appropriate functional annotations has been used as an indispensable step to select candidate variants. Here we present the latest updates to dbNSFP (version 4.1), a database designed to facilitate th...

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Detalles Bibliográficos
Autores principales: Liu, Xiaoming, Li, Chang, Mou, Chengcheng, Dong, Yibo, Tu, Yicheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7709417/
https://www.ncbi.nlm.nih.gov/pubmed/33261662
http://dx.doi.org/10.1186/s13073-020-00803-9