Figure 1.

Workflow of heteroplasmy detection with NOVOPlasty. For simplicity, the representation of the workflow is limited to unidirectional extension. (A) During consensus calling, all positions with a polymorphism higher than the given minor allele frequency (MAF) are marked for further analysis. (B) Each marked position will be subjected to additional filtering steps, low quality scores and over-represented reads (as a result of duplications during PCR) will be removed. (C) The remaining polymorphisms will be subjected to an additional assembly step to link to other mutations sites or to exclude NUMT sequences.