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Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.

EBioMedicine 56:102784 (2020)
Publ. Version/Full Text DOI
Open Access Gold
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Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups of inherited diseases. The vast phenotypic overlap with other disease entities together with the absence of reliable biomarkers act as driving forces for the integration of unbiased methodologies early in the diagnostic algorithm, such as whole exome sequencing (WES) and whole genome sequencing (WGS). Such approaches are used in variant discovery and in combination with high-throughput functional assays such as transcriptomics in simultaneous variant discovery and validation. By capturing all genes, they not only increase the diagnostic rate in heterogenous mitochondrial disease patients, but accelerate novel disease gene discovery, and are valuable in side-stepping the risk of overlooking unexpected or even treatable genetic disease diagnoses.
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Publication type Article: Journal article
Document type Review
Keywords Mitochondrial Disease ; Mutation ; Diagnostic ; Genetic ; Multi-omic; Complex; Dna; Disorders; Pathway; Deletions; Muscle
ISSN (print) / ISBN 2352-3964
e-ISSN 2352-3964
Journal EBioMedicine
Quellenangaben Volume: 56, Issue: , Pages: , Article Number: 102784 Supplement: ,
Publisher Elsevier
Publishing Place Amsterdam [u.a.]
Reviewing status Peer reviewed