articleNature GeneticsFeb 2, 2014BRONZE OA

A general framework for estimating the relative pathogenicity of human genetic variants

MKMartin KircherDWDaniela WittenPJPreti JainBJBrian J. O’RoakGMGregory M. Cooper

University of Washington · Cancer Research And Biostatistics · +1 more institution

PubMed
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Topics
Keywords
  • Biology
  • Annotation
  • Missense mutation
  • Allele
  • Computational biology
  • Genetics
  • Human genetic variation
  • Human genome
UN Sustainable Development Goals
  • Life in Land
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