Genetic & Genomic MedicinemedRxivPreprint
Large-scale blood mitochondrial genome-wide study provides novel insights into mitochondrial disease-related traits
Stuart J Cannon, T Hall, Gareth Hawkes…·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.
DOI 10.1101/2023.06.12.23291273