Home
Deutsch
Advanced Search
Browse by ...
Publication overview
Contact persons
Help
DOI
PMC
 |
|
Open Access Green as soon as Postprint is submitted to ZB.
Advancing genomic approaches to the molecular diagnosis of mitochondrial disease.
Essays Biochem. 62, 399-408 (2018)
Mitochondrial diseases present a diagnostic challenge due to their clinical and genetic heterogeneity. Achieving comprehensive molecular diagnosis via a conventional candidate-gene approach is likely, therefore, to be labour-and cost-intensive given the expanding number of mitochondrial disease genes. The advent of whole exome sequencing (WES) and whole genome sequencing (WGS) hold the potential of higher diagnostic yields due to the universality and unbiased nature of the methods. However, these approaches are subject to the escalating challenge of variant interpretation. Thus, integration of functional ` multi-omics' data, such as transcriptomics, is emerging as a powerful complementary tool in the diagnosis of mitochondrial disease patients for whom extensive prior analysis of DNA sequencing has failed to return a genetic diagnosis.
Altmetric
Additional Metrics?
Edit extra informations
Login
Publication type
Article: Journal article
Document type
Review
Keywords
Genetic Diagnosis; Sequence Variants; Mendelian Disease; Clinical Genome; Mutations; Guidelines; Phenotypes; Repository; Database; Capture
ISSN (print) / ISBN
0071-1365
e-ISSN
1744-1358
Journal
Essays in Biochemistry
Quellenangaben
Volume: 62,
Issue: 3,
Pages: 399-408
Publisher
Portland Press
Publishing Place
London
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)