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RNA sequencing role and application in clinical diagnostic.
Pediatr. Investig. 6, 29-35 (2022)
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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Publication type
Article: Journal article
Document type
Review
Keywords
Aberrant Expression ; Clinical Diagnosis ; Gene Expression Outliers ; Genetics Diagnosis ; Rna Phenotype ; Rna Sequencing ; Transcriptome
ISSN (print) / ISBN
2574-2272
e-ISSN
2574-2272
Journal
Pediatric Investigation
Quellenangaben
Volume: 6,
Issue: 1,
Pages: 29-35
Publisher
Wiley
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
Grants
Bavarian State Ministry of Health and Care