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Table 3 Number of variants within LCL and blood subsets, sorted by heteroplasmic fraction and variability score.

From: Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data

Variability

Sample

HF<0.10

0.11<HF<0.75

0.76<HF<0.99

HF = 1

F-test

≤0.20

LCL

66

120

214

783

0.90

≤0.20

blood

22

119

260

820

0.90

>0.20

LCL

3

6

74

489

0.39

>0.20

blood

2

8

49

542

0.39

  1. The highest number of positions shows low variability (≤0.20), and although no statistically significant difference was observed between the LCLs/blood overall distributions of variants, an enrichment in low-level heteroplasmies was detected in LCLs low-variability variants.
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BMC Genomics

ISSN: 1471-2164

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