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ClinVar: improving access to variant interpretations and supporting evidence.

Melissa J. LandrumJennifer M. LeeMark BensonGarth R. BrownChen ChaoShanmuga ChitipirallaBaoshan GuJennifer HartDouglas HoffmanWonhee JangKaren KarapetyanKenneth S. KatzChunlei LiuZenith MaddipatlaAdriana J. MalheiroKurt McDanielMichael OvetskyGeorge R. RileyGeorge ZhouJ. Bradley HolmesBrandi L. KattmanDonna R. Maglott
Published in: Nucleic Acids Res. (2018)
Keyphrases
  • empirical evidence
  • decision support
  • access control
  • random access
  • databases
  • artificial intelligence
  • multiple interpretations
  • database
  • case study
  • objective function
  • multiple users