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ClinVar: public archive of interpretations of clinically relevant variants.

Melissa J. LandrumJennifer M. LeeMark BensonGarth R. BrownChen ChaoShanmuga ChitipirallaBaoshan GuJennifer HartDouglas HoffmanJeffrey HooverWonhee JangKenneth S. KatzMichael OvetskyGeorge R. RileyAmanjeev SethiRay E. TullyRicardo Villamarín-SalomónWendy S. RubinsteinDonna R. Maglott
Published in: Nucleic Acids Res. (2016)
Keyphrases
  • clinically relevant
  • metadata
  • data sets
  • digital archives
  • public space
  • information systems
  • similarity measure
  • preprocessing
  • lower bound