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Table 2 Summary related to indels and mismatches detected within the 1242 analyzed mitochondrial genomes

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

Events

% Homoplasmic

% Annotated in Healthy

% Annotated in Patients

% Heteroplasmic

% Annotated in Healthy

% Annotated in Patients

Indels

6.05

15.38

0.00

98.60

21.23

7.91

Mismatches

64.69

88.48

76.36

68.39

62.75

53.65

  1. Statistics about homoplasmic and heteroplasmic mitochondrial events are here reported. Events are discriminated between indels and mismatches. The percentages of homoplasmic and heteroplasmic observed variants annotated in healthy and patients genomes stored in HmtDB [18] are reported. A fraction of variant sites was found as homoplasmic in any samples and heteroplasmic in others.
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BMC Genomics

ISSN: 1471-2164

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