Article
Enhancing Diagnosis Through RNA Sequencing.
Clinics in laboratory medicine - 1 Jun 2020
Murdock David R
Abstract excerpt
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) reveals the functional consequence of genetic variation through the detection of abnormal gene expression levels,...
Topics
- Genetic Variation
- Humans
- Molecular Diagnostic Techniques
- Sequence Analysis, RNA
- Whole Genome Sequencing