Fig. 1

Pathogenic mtDNA variants with high levels of heteroplasmy in MB patients a Overview of the variant filtering and classification workflow created with Biorender.com. The numbers shown refer to the number of calls at each analysis stage regardless of the number of patients harbouring these calls. b Circle plots illustrating the proportion of patients with and without mtDNA variants in ICGC (top) and HIT (bottom) cohorts. A patient was counted as mutated if an observed variant had been classified as (likely) pathogenic or disease-associated and showed a heteroplasmy of at least 50%