Figure 1 | Genetics in Medicine

Figure 1

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

Figure 1

Long-range PCR overcomes nuclear mitochondrial DNA homologs interference with the enrichment of mitochondrial genome. (a) Frequency of mitochondrial DNA (mtDNA) homologs presented in the nuclear genome. (b) Enrichment of mtDNA by solution capture with mtDNA-specific probes before massively parallel sequencing (MPS) results in uneven coverage of mtDNA sequence. (c) Distribution of mtDNA sequences nonspecifically captured by nuclear exome probes. (d) Long-range PCR amplification of mtDNA before MPS provides uniform coverage of the entire mitochondrial genome.

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