Table 3

Heteroplasmy detection levels made using the MFP analysis algorithm.

    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%


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.

Xie et al. BMC Bioinformatics 2011 12:402   doi:10.1186/1471-2105-12-402

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