Reanalysis of Clinical Exome Sequencing Data

N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033.
No abstract available

Publication types

  • Letter

MeSH terms

  • Exome
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Genetic Testing / methods*
  • Humans
  • Mutation
  • Phenotype
  • Sequence Analysis, DNA / methods*
  • Whole Exome Sequencing*