Practicality of identifying mitochondria variants from exome and RNAseq data

Background The rapid progress in high throughput sequencing technology has significantly enriched our capability to study mitochondria genomes. Other than performing mitochondria targeted sequencing, an increasingly popular alternative approach is to utilize the off-target reads from exome sequencing to infer mitochondria genomic variants including SNP and heteroplasmy[1-9]. However, the effectiveness and practicality of such an approach has not been tested. Recently, RNAseq data has also been suggested as good source for alternative data mining[10,11], but whether mitochondria variants are minable has not been studied.