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Molecular diagnostics of Mendelian disorders via combined DNA and RNA sequencing.
Med. Genet. 31, 191-197 (2019)
The diagnostic yield in rare disorders is currently less than 50% although sequencing technologies in use are able to detect the majority of possible variants in our genome. The diagnostic gap is in part due to limitations in prioritizing and interpreting identified variants. The integration of functional data, such as transcriptomics, is emerging as a powerful complementary tool in diagnostics. It is able to quantify aberrant splicing, validate nonsense-mediated mRNA decay for potential loss-of-function variants, identify mono-allelically expressed variants, and help prioritize variants not predicted to change the encoded protein. Moreover, RNA-sequencing has been validated as a tool for the discovery of pathogenic variants in novel Mendelian disease genes. As RNA sequencing provides complementary information to DNA sequencing and can easily be established in addition to DNA sequencing, it has great potential for implementation as a routine tool for improving molecular diagnosis.
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Publication type
Article: Journal article
Document type
Review
Keywords
Aberrant Expression ; Mitochondrial Disorders ; Aberrant Splicing ; Whole-genome Sequencing
ISSN (print) / ISBN
0936-5931
e-ISSN
1863-5490
Journal
Medizinische Genetik
Quellenangaben
Volume: 31,
Issue: 2,
Pages: 191-197
Publisher
Springer
Publishing Place
Tiergartenstrasse 17, D-69121 Heidelberg, Germany
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)