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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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Publicat a:Genome Med
Autors principals: Liu, Xiaoming, Li, Chang, Mou, Chengcheng, Dong, Yibo, Tu, Yicheng
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7709417/
https://ncbi.nlm.nih.gov/pubmed/33261662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-020-00803-9
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