dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs
By Xiaoming Liu, Chang Li, Chengcheng Mou, Yibo Dong, Yicheng Tu. Genome Medicine, 2020
562 citations recorded by the source corpus.
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 http://database.liulab.science/dbNSFP with a downloadable version and a web-service.
Subfields: Genetics, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/b1adbddb3027c9a5e6342f00a889c99d06c0e724
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In Genetics
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Citations in the corpus
- Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria (2022, methodology): “Except for BayesDel, CADD, EA, MutPred2, and PolyPhen-2, precomputed variant prediction scores for all tools were obtained from the database of human nonsynonymous SNPs and their functional predictions (dbNSFP).(26) For the five tools mentioned above, prediction scores were generated for the variant”