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Updated: Sep 28, 2025
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
34.1K
RNA sequencing role and application in clinical diagnostic
Fatemeh Peymani1,2, Aiman Farzeen1,2, Holger Prokisch1,2
1School of Medicine, Institute of Human Genetics Technical University of Munich Munich Germany.
Pediatric Investigation
|April 6, 2022
Summary
RNA sequencing (RNA-seq) enhances molecular diagnosis for genetic disorders by providing functional evidence. This approach aids in identifying causal variants when genomic data alone is insufficient, improving diagnostic rates for Mendelian diseases.
Area of Science:
- Genomics
- Molecular Biology
- Medical Genetics
Background:
- Genomic sequencing (whole-exome and whole-genome) has advanced understanding of genetic disorders but leaves many patients undiagnosed.
- Interpreting variants of uncertain significance and noncoding variants remains a major challenge in genetic diagnostics.
Purpose of the Study:
- To provide an overview of RNA sequencing (RNA-seq) implementation in diagnosing Mendelian disorders.
- To highlight RNA-seq's role in complementing genomic data with functional evidence.
Main Methods:
- RNA sequencing (RNA-seq) as a high-throughput assay.
- Analyzing RNA-seq data for aberrant splicing, allele-specific expression, and gene expression outliers.
Main Results:
- RNA sequencing (RNA-seq) offers functional insights to complement genomic data.
- Studies show a mean diagnostic uplift of 15% when incorporating RNA-seq.
- RNA-seq aids in identifying causal variants for Mendelian disorders.
Conclusions:
- RNA sequencing (RNA-seq) is a valuable tool to increase diagnostic yield in genetic disorders.
- Integrating RNA-seq with genomic data improves the identification of disease-causing variants.
- RNA-seq addresses limitations in interpreting genomic data for Mendelian diseases.
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