The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders

Clin Lab Med. 2020 Jun;40(2):121-133. doi: 10.1016/j.cll.2020.02.004.
No abstract available

Keywords: Diagnostic yield; Genomic sequencing; RNA-seq; Variant prioritization.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Mitochondrial Diseases / genetics
  • Molecular Diagnostic Techniques*
  • Muscular Diseases / genetics
  • RNA-Seq*
  • Whole Genome Sequencing*