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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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Pubblicato in:Genome Med
Autori principali: Liu, Xiaoming, Li, Chang, Mou, Chengcheng, Dong, Yibo, Tu, Yicheng
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2020
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Accesso online: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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