A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

Mol Genet Metab. 2017 Jun;121(2):91-95. doi: 10.1016/j.ymgme.2017.04.002. Epub 2017 Apr 7.
No abstract available

Keywords: Clinical exome interpretation; Consanguinity; Diagnostic odyssey; Next-generation sequencing; Whole-exome sequencing.

Publication types

  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Cohort Studies
  • Consanguinity*
  • Exome*
  • Female
  • Humans
  • Male
  • Molecular Diagnostic Techniques / methods*
  • Pedigree
  • Saudi Arabia