Next generation sequence analysis for mitochondrial disorders

Table 2 Specificity and depth of coverage for targeted regions

Sample	Sequence output	Percentage of reads mapping to targeted nuclear genes	Percentage of reads mapping to mtDNA genome	Mean fold-coverage of targeted nuclear genes	Mean fold-coverage of mtDNA genome	Percentage of called variants in dbSNP 129
HapMap	356 Mb	17	37	37×	5,001×	90
Patient 1	297 Mb	35	20	51×	2,936×	94
Patient 2	333 Mb	30	27	51×	4,236×	93

ISSN: 1756-994X