MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data
Fig 2
Outline of testing scheme for MitoScape.
Nine different 22q11.2 deletion syndrome (DS) samples were chosen for performance testing. For each sample, we performed both 1) PCR amplification to enrich mtDNA, and 2) whole genome sequencing (WGS). MitoScape was applied to the WGS samples to obtain accurate mtDNA alignments. Variants were then called from both the resulting mtDNA from both mtDNA enrichment (Benchmark mtDNA) and WGS (test mtDNA) to obtain mtDNA variants. The Benchmark mtDNA variants represent the gold-standard variants from the nine samples. The test mtDNA variants were then compared to the Benchmark set for evaluation of the performance of MitoScape. Heteroplasmy values of the test mtDNA variants similar to those of the Benchmark variants, indicates that MitoScape is doing well, and vice-versa.