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.
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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.
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