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Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications

Macken, WL; Lucassen, AM; Hanna, MG; Pitceathly, RDS; (2021) Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications. Nature Reviews Genetics , 22 pp. 547-548. 10.1038/s41576-021-00381-5. Green open access

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Abstract

A broad spectrum of rare disease presentations can now be investigated by analysing mitochondrial DNA (mtDNA) variants from whole-genome sequencing (WGS) data. However, mtDNA mutations may cause unanticipated, extended phenotypes and have reproductive implications. We recommend that these be considered by patients and clinicians before embarking on WGS.

Type: Article
Title: Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/s41576-021-00381-5
Publisher version: https://doi.org/10.1038/s41576-021-00381-5
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions.
Keywords: DNA sequencing, Endocrine system and metabolic diseases, Genetic variation, Medical genomics, Mitochondrial genome
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10131575
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