After sequence read quality and damage filtering (Supplementary Fig. 4), we called per -
individual consensus sequences for nucleotide positions covered by a minimum of two independent reads.
Not exact matches
Polymorphisms observed in the
consensus sequences of all
individuals were cross-referenced with the MITOMAP database (http://www.mitomap.org/MITOMAP) of reported disease - associated mutations to determine whether any
individuals harbored disease - causing mtDNA SNPs.
In order to measure associations with mtDNA SNPs and haplogroups, mtDNA
consensus sequences were identified for each
individual.
The resulting
consensus sequences averaged 16,231 ± 455 bp, or 98.1 % of the complete mitochondrial genome, with the average number of reads per nucleotide position (fold -
sequence coverage) ranging from 7.4 × to 117 × among the 9
individuals (Supplementary Data 1).
mtDNA
sequences from the 166
individuals were aligned with published
sequences from 17 additional
individuals, resolving 52 unique haplotypes from a
consensus length of 410 bp.