Enhancing Diagnosis Through RNA Sequencing

• Published in: Clinics in laboratory medicine Vol. 40; no. 2; p. 113
• Main Author: Murdock, David R
• Format: Journal Article
• Language: English
• Published: United States 01.06.2020
• Subjects: RNA sequencing (RNAseq); Noncoding variation; Variants of uncertain significance (VUS); Exome sequencing (ES); Genome sequencing (GS)

The diagnostic rate of comprehensive genomic sequencing remains only 25% to 30% due to the difficulty in interpreting variants of uncertain significance and noncoding mutations and in elucidating downstream effects of these and other genetic changes. Unlike DNA sequencing, RNA sequencing (RNAseq) re...