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Updated: Dec 20, 2025

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

Published on: August 4, 2016

Enhancing Diagnosis Through RNA Sequencing.

David R Murdock¹

¹Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA.

Clinics in Laboratory Medicine

|May 23, 2020

Summary

This summary is machine-generated.

RNA sequencing (RNAseq) significantly improves diagnostic rates for rare diseases by revealing functional genetic consequences missed by DNA sequencing. This technology enhances precision medicine by uncovering gene expression and splicing abnormalities.

Keywords:

Exome sequencing (ES)Genome sequencing (GS)Noncoding variation RNA sequencing (RNAseq)Variants of uncertain significance (VUS)

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Area of Science:

Genomics
Molecular Biology
Bioinformatics

Background:

Comprehensive genomic sequencing has a limited diagnostic yield of 25-30%.
Challenges include interpreting variants of uncertain significance, noncoding mutations, and downstream effects.
Understanding functional consequences of genetic variation is crucial for diagnosis.

Purpose of the Study:

To highlight the utility of RNA sequencing (RNAseq) in improving diagnostic rates.
To demonstrate RNAseq's ability to reveal functional genetic consequences.
To emphasize RNAseq's role in advancing precision medicine.

Main Methods:

RNA sequencing (RNAseq) analyzes gene expression levels, splicing patterns, and allele-specific expression.
Comparison of diagnostic yield between DNA sequencing and RNAseq.
Application of RNAseq in diverse disease and tissue contexts.

Main Results:

RNAseq can improve diagnostic rates by nearly 40%, depending on the disease and tissue.
RNAseq detects abnormal gene expression, altered splicing, and allele-specific expression.
RNAseq provides insights into the functional impact of genetic variations.

Conclusions:

RNA sequencing is a powerful tool for enhancing diagnostic rates in genetic diseases.
RNAseq offers a significant advantage over DNA sequencing in uncovering disease mechanisms.
The integration of RNAseq is vital for the progress of precision medicine.