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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.
Impact Factor
Scopus SNIP
Altmetric
0.104
0.106
Anmerkungen
Besondere Publikation
Auf Hompepage verbergern
Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Review
Schlagwörter
Aberrant Expression ; Mitochondrial Disorders ; Aberrant Splicing ; Whole-genome Sequencing
Sprache
englisch
Veröffentlichungsjahr
2019
HGF-Berichtsjahr
2019
ISSN (print) / ISBN
0936-5931
e-ISSN
1863-5490
Zeitschrift
Medizinische Genetik
Quellenangaben
Band: 31,
Heft: 2,
Seiten: 191-197
Verlag
Springer
Verlagsort
Tiergartenstrasse 17, D-69121 Heidelberg, Germany
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)
POF Topic(s)
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er)
Genetics and Epidemiology
PSP-Element(e)
G-500700-001
WOS ID
WOS:000481763600002
Scopus ID
85068068868
Erfassungsdatum
2019-09-24