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

Macken WL., Lucassen AM., Hanna MG., Pitceathly RDS.

DOI

10.1038/s41576-021-00381-5

Type

Journal article

Journal

Nature reviews. Genetics

Publication Date

09/2021

Volume

22

Pages

547 - 548

Addresses

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.

Keywords

Humans, Mitochondrial Diseases, DNA, Mitochondrial, Molecular Diagnostic Techniques, Genomics, Mutation, Whole Genome Sequencing

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