Large-scale blood mitochondrial genome-wide study provides novel insights into mitochondrial disease-related traits
Stuart J Cannon, T Hall, Gareth Hawkes, Kevin Colclough, Róisín M. Boggan, Caroline Fiona Wright, Sarah J. Pickett, Andrew Tym Hattersley, MN Weedon, Kashyap Amratlal Patel
This study uses whole-genome sequencing to identify mitochondrial DNA variants associated with mitochondrial disease traits in a large population, finding novel associations and lower penetrance in unselected individuals.
medRxiv · Jun 12, 2023 · PreprintGenetic & Genomic Medicine