Journal
GENOME MEDICINE
Volume 12, Issue 1, Pages -Publisher
BMC
DOI: 10.1186/s13073-020-00803-9
Keywords
Whole exome sequencing; Database; Nonsynonymous SNV; Deleteriousness prediction; Functional annotation
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Funding
- National Human Genome Research Institute [1R03HG011075]
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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 this step by providing deleteriousness prediction and functional annotation for all potential nonsynonymous and splice-site SNVs (a total of 84,013,093) in the human genome. The current version compiled 36 deleteriousness prediction scores, including 12 transcript-specific scores, and other variant and gene-level functional annotations. The database is available at with a downloadable version and a web-service.
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