RNA Sequencing as a Diagnostic Tool

JAMA. 2023 Jan 3;329(1):85-86. doi: 10.1001/jama.2022.22843.
No abstract available

Plain language summary

This JAMA Insights discusses RNA sequencing, which allows detection of qualitative and quantitative changes in RNA expression across the genome in clinical samples, and how it may improve molecular diagnostic rates achieved by diagnostic exome sequencing and whole-genome sequencing alone.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Base Sequence
  • Exome*
  • High-Throughput Nucleotide Sequencing*
  • Sequence Analysis, RNA