Diagnostic clinical genome and exome sequencing

N Engl J Med. 2014 Jun 19;370(25):2418-25. doi: 10.1056/NEJMra1312543.
No abstract available

Publication types

  • Review

MeSH terms

  • Exome*
  • Genetic Counseling
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Genetic Testing
  • Genome, Human*
  • Humans
  • Phenotype
  • Sequence Analysis, DNA* / methods