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A probabilistic disease-gene finder for personal genomes.

Genome research | Sep 2, 2011

VAAST (the Variant Annotation, Analysis & Search Tool) is a probabilistic search tool for identifying damaged genes and their disease-causing variants in personal genome sequences. VAAST builds on existing amino acid substitution (AAS) and aggregative approaches to variant prioritization, combining elements of both into a single unified likelihood framework that allows users to identify damaged genes and deleterious variants with greater accuracy, and in an easy-to-use fashion. VAAST can score both coding and noncoding variants, evaluating the cumulative impact of both types of variants simultaneously. VAAST can identify rare variants causing rare genetic diseases, and it can also use both rare and common variants to identify genes responsible for common diseases. VAAST thus has a much greater scope of use than any existing methodology. Here we demonstrate its ability to identify damaged genes using small cohorts (n = 3) of unrelated individuals, wherein no two share the same deleterious variants, and for common, multigenic diseases using as few as 150 cases.

Pubmed ID: 21700766 RIS Download

Mesh terms: Abnormalities, Multiple | Amino Acid Substitution | Diarrhea | Genes | Genes, Recessive | Genetic Predisposition to Disease | Genome, Human | Genome-Wide Association Study | Humans | Limb Deformities, Congenital | Mandibulofacial Dysostosis | Metabolism, Inborn Errors | Micrognathism | Multifactorial Inheritance | Polymorphism, Single Nucleotide | RNA, Untranslated | Software

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Associated grants

  • Agency: NHGRI NIH HHS, Id: RC2 HG005619
  • Agency: NHGRI NIH HHS, Id: 1RC2HG005619
  • Agency: NIGMS NIH HHS, Id: GM59290
  • Agency: NHGRI NIH HHS, Id: 1R4HG003667
  • Agency: NHGRI NIH HHS, Id: R44 HG003667
  • Agency: NHGRI NIH HHS, Id: R44 HG006579
  • Agency: NIGMS NIH HHS, Id: R01 GM059290
  • Agency: NHGRI NIH HHS, Id: K99 HG005846
  • Agency: NHGRI NIH HHS, Id: R43 HG003667
  • Agency: NHGRI NIH HHS, Id: K99HG005846
  • Agency: NHLBI NIH HHS, Id: 1T32HL105321-01
  • Agency: NHLBI NIH HHS, Id: T32 HL105321

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