Mitochondrial sequences
Detailed sample and variant quality control are described in the supplementary methods. In special consideration of mtDNA-CN as the GWAS phenotype, we also removed variants within “NUMTs”,
- which refer to regions of the nuclear genome
- that exhibit homology to the mitochondrial genome
- Due to past transposition of mitochondrial sequences.
After quality control, 359,689 British, 10,598 Irish, 13,189 Other White, 6,172 South Asian, and 6,133 African samples had suitable array-based mtDNA-CN estimates for subsequent GWAS testing.