PhenoScanner V2: an expanded tool for searching human genotype–phenotype associations

SUMMARY: PhenoScanner is a curated database of publicly available results from large-scale genetic association studies in humans. This online tool facilitates 'phenome scans', where genetic variants are cross-referenced for association with many phenotypes of different types. Here we present a major update of PhenoScanner ('PhenoScanner V2'), including over 150 million genetic variants and more than 65 billion associations (compared to 350 million associations in PhenoScanner V1) with diseases and traits, gene expression, metabolite and protein levels, and epigenetic markers. The query options have been extended to include searches by genes, genomic regions and phenotypes, as well as for genetic variants. All…

• P
  Pfizer

  Award: G73632
• NI
  National Institute on Handicapped Research
• NI
  National Institute for Health and Care Research
• BH
  British Heart Foundation

  Awards: RG/13/13/30194; RG/18/13/33946, RG/18/13/33946, G0800270, SP/09/002, RG/13/13/30194, RG/18/13/33946, SP/09/002; RG/13/13/30194; RG/18/13/33946, RG/13/13/30194
• EC
  European Commission

  Awards: 268834, HEALTH-F2-2012-279233, 279233
• MR
  Medical Research Council

  Awards: RG/13/13/30194, MR/L003120/1, MR/S003746/1, G0800270, MR/L003120, MR/L003120/1
• HE
  H2020 European Research Council

  Award: 268834