VIPdb, a genetic Variant Impact Predictor Database

Hum Mutat. 2019 Sep;40(9):1202-1214. doi: 10.1002/humu.23858. Epub 2019 Aug 17.

Abstract

Genome sequencing identifies vast number of genetic variants. Predicting these variants' molecular and clinical effects is one of the preeminent challenges in human genetics. Accurate prediction of the impact of genetic variants improves our understanding of how genetic information is conveyed to molecular and cellular functions, and is an essential step towards precision medicine. Over one hundred tools/resources have been developed specifically for this purpose. We summarize these tools as well as their characteristics, in the genetic Variant Impact Predictor Database (VIPdb). This database will help researchers and clinicians explore appropriate tools, and inform the development of improved methods. VIPdb can be browsed and downloaded at https://genomeinterpretation.org/vipdb.

Keywords: SNV phenotype; SV impact; VIPdb; genotype-phenotype relationship; variant impact; variant impact prediction.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Computational Biology
  • Databases, Genetic*
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Genome, Human
  • Humans
  • Phenotype
  • Precision Medicine
  • Protein Structure, Secondary
  • Proteins / chemistry*
  • Proteins / genetics*
  • User-Computer Interface

Substances

  • Proteins