Enhancing Diagnosis Through RNA Sequencing

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...

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Bibliographic Details
Published inClinics in laboratory medicine Vol. 40; no. 2; p. 113
Main Author Murdock, David R
Format Journal Article
LanguageEnglish
Published United States 01.06.2020
Subjects
RNA sequencing (RNAseq)
Noncoding variation
Variants of uncertain significance (VUS)
Exome sequencing (ES)
Genome sequencing (GS)
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Summary: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, differences in gene splicing, and allele-specific expression. RNAseq can provide nearly 40% improvement in diagnostic rates depending on disease and tissue source. In this burgeoning era of precision medicine, RNAseq offers a powerful tool to improve diagnostic rates and understand disease mechanisms.
ISSN:1557-9832
DOI:10.1016/j.cll.2020.02.001