Genetic variation: ExAC boosts clinical variant interpretation in rare diseases

Nat Rev Genet. 2016 Sep 15;17(10):584. doi: 10.1038/nrg.2016.121.
No abstract available

MeSH terms

  • DNA Copy Number Variations / genetics*
  • Exome / genetics*
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Rare Diseases / genetics*
  • Whole Exome Sequencing / methods*