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Peymani, F. ; Farzeen, A. ; Prokisch, H.

RNA sequencing role and application in clinical diagnostic.

Pediatr. Investig. 6, 29-35 (2022)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Although whole-exome sequencing and whole-genome sequencing has tremendously improved our understanding of the genetic etiology of human disorders, about half of the patients still do not receive a molecular diagnosis. The high fraction of variants with uncertain significance and the challenges of interpretation of noncoding variants have urged scientists to implement RNA sequencing (RNA-seq) in the diagnostic approach as a high throughput assay to complement genomic data with functional evidence. RNA-seq data can be used to identify aberrantly spliced genes, detect allele-specific expression, and identify gene expression outliers. Amongst eight studies utilizing RNA-seq, a mean diagnostic uplift of 15% has been reported. Here, we provide an overview of how RNA-seq has been implemented to aid in identifying the causal variants of Mendelian disorders.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Korrespondenzautor
Schlagwörter Aberrant Expression ; Clinical Diagnosis ; Gene Expression Outliers ; Genetics Diagnosis ; Rna Phenotype ; Rna Sequencing ; Transcriptome
ISSN (print) / ISBN 2574-2272
e-ISSN 2574-2272
Zeitschrift Pediatric Investigation
Quellenangaben Band: 6, Heft: 1, Seiten: 29-35 Artikelnummer: , Supplement: ,
Verlag Wiley
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Förderungen Bavarian State Ministry of Health and Care