Variant Annotation Analysis and Search Tool (English)

  • a gene-burden test that ranks the probability that a gene is damaged based on the genotypes found in the gene, the frequency of those genotypes in a background population, the amino acid substitution of each variant in that gene relative to variants found in the background samples, and the phastCon cross-species conservation at the variant site
  • Genomics
  • https://www.nat…467-019-12582-y