Figure 2 | Genetics in Medicine

Figure 2

From: Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

Figure 2

The presence of nuclear mitochondrial DNA homologs and single-nucleotide polymorphisms (SNPs) at primer binding sites produces incorrect variant calls. (a) Targeted PCR/Sanger sequencing and (b) long-range PCR/massively parallel sequencing (MPS) rendered inconsistent results. The m.4104A→G, m.4312C→T, m.4318C→T, m.4456C→T, and m.4736T→C homoplasmic changes were detected by Sanger sequencing but not by MPS, whereas m.4216T→C and m.4232T→C homoplasmic changes were solely detected by MPS. (c,d) Highly polymorphic features of mitochondrial DNA. Frequencies of MITOMAP-reported (c) SNPs and (d) mutations were plotted against mitochondrial genome.

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