dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations
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Discussion
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Implication
Genomic resource update reveals expanded variant predictions and annotations across the human genome, suggesting streamlined interpretation of high-throughput exome sequencing data.
Key Points
- Update and expand dbNSFP, a centralized database providing functional predictions, conservation scores, and biological annotations for all potential human non-synonymous single-nucleotide variants.
- Recompiled the human single-nucleotide variant catalog based on GENCODE 9 gene definitions.
- Integrated additional prediction tools (MutationAssessor, FATHMM) and conservation metrics (GERP++, SiPhy) alongside updated algorithms (SIFT, PolyPhen-2, LRT, MutationTaster, PhyloP).
- Incorporated allele frequencies from the 1000 Genomes Project phase 1 and the NHLBI Exome Sequencing Project, as well as gene expression and interaction metadata.
- Expanded the repository to 87,347,043 non-synonymous SNVs and 2,270,742 essential splice site SNVs, an 18% increase compared to version 1.0.
- Compiled functional impact scores and conservation profiles spanning nine distinct predictive algorithms for every indexed variant.
Cite This Study
Liu et al. (2013) studied this question.