The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations
Open accessAbstract
dbNSFP is a database developed for functional prediction and annotation of all potential non-synonymous single-nucleotide variants (nsSNVs) in the human genome. This database significantly facilitates the process of querying predictions and annotations from different databases/web-servers for large amounts of nsSNVs discovered in exome-sequencing studies. Here we report a recent major update of the database to version 2.0. We have rebuilt the SNV collection based on GENCODE 9 and currently the database includes 87,347,043 nsSNVs and 2,270,742 essential splice site SNVs (an 18% increase compared to dbNSFP v1.0). For each nsSNV dbNSFP v2.0 has added two prediction scores (MutationAssessor and FATHMM) and two conservation scores (GERP++ and SiPhy). The original five prediction and conservation scores in v1.0 (SIFT, Polyphen2, LRT, MutationTaster and PhyloP) have been updated. Rich functional annotations for SNVs and genes have also been added into the new version, including allele frequencies observed in the 1000 Genomes Project phase 1 data and the NHLBI Exome Sequencing Project, various gene IDs from different databases, functional descriptions of genes, gene expression and gene interaction information, among others. dbNSFP v2.0 is freely available for download at http://sites.google.com/site/jpopgen/dbNSFP.
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Cites
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BackgroundA high-resolution map of human evolutionary constraint using 29 mammals
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Cited by
The Ensembl Variant Effect Predictor
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Mutational landscape determines sensitivity to PD-1 blockade in non–small cell lung cancer
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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
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Self-citationContribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
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Metadata
- Authors
- Liu, X., Jian, X., & Boerwinkle, E.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2013-07-10
- Volume
- 34
- Issue
- 9
- Pages
- E2393-E2402
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W2086072858
- Cited by
- 587
- References
- 9
- FWCI
- 52.80
- Type
- journal article
- Language
- en
- Open access
- bronze
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