dbNSFP v4.1c
Description
dbNSFP is a database developed for functional prediction and annotation of all potential non-synonymous single-nucleotide variants (nsSNVs) in the human genome. Update information and download links can be found at https://sites.google.com/site/jpopgen/dbNSFP. Webservice, update information, and download links can be found at http://database.liulab.science/dbNSFP.
dbNSFP v4.1 is released on June 16 2020. BayesDel (https://doi.org/10.1002/humu.23158), ClinPred (https://doi.org/10.1016/j.ajhg.2018.08.005) and LIST-S2 (https://doi.org/10.1093/nar/gkaa288) scores have been added. CADD has been updated to v1.6, CADD score based on hg19 model has been added. gnomAD genomes have been updated to r3.0: populations AMI (Amish) and SAS (South Asian) have been added; controls have been removed. Clinvar, GTEx have been updated. HPO terms have been added to the dbNSFP_gene. search_dbNSFP programs now support searching SpliceAI (https://doi.org/10.1016/j.cell.2018.12.015) as an attached database, please refer to the readme files of the search_dbNSFP programs for details.
Two branches of dbNSFP are provided: dbNSFP4.1a suitable for academic use, which includes all the resources, and dbNSFP4.1c suitable for commercial use, which does not include Polyphen2, VEST, REVEL, ClinPred, CADD, LINSIGHT, and GenoCanyon.
dbNSFP4.1c can be downloaded here from zenodo or from softgenetics ftp or googledrive.
Files
dbNSFP4.1c.readme.txt
Files
(25.2 GB)
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Additional details
Related works
- Cites
- Journal article: 10.1186/s13073-020-00803-9 (DOI)
References
- Liu X, Li C, Mou C, Dong Y, Tu Y. (2020) dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. Genome Medicine. 12:103.