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Table 3 Heteroplasmy detection levels made using the MFP analysis algorithm.

From: Mitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy

Sample ID mtDNA Genome Position Heteroplasmy Level Sanger Heteroplasmy Level MFP
2 A3243G 84% 61%
6 C5049T N.D. 34%
8 C12264T 30% 43%
9 5537 5537_5538 insT (100%) 58%
  5538   45%
17 G9966A 20% Sample excluded
18 A1709G 25% Sample excluded
21 C12879T 45% 55%
  1. Sample #2, #6, #8, and #21 had heteroplasmic variants detected both by Sanger sequencing and MFP analysis of MitoChip v2.0 data. Of interest, the 5537_5538insT in tRNA-TRP identified by Sanger sequencing in sample #9 was interpreted in MFP as a heteroplasmic mutation at both positions 5537 and 5538. Although a heteroplasmic A1709G site was detected by Sanger sequencing in sample #18, this sample was excluded from MFP analysis due to poor sample quality. "N.D." = not determined.