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

ABSTRACT:

Background

Whole Exome Sequencing (WES) is one of the most used and cost-effective next generation technologies that allows sequencing of all nuclear exons. Off-target regions may be captured if they present high sequence similarity with baits. Bioinformatics tools have been optimized to retrieve a large amount of WES off-target mitochondrial DNA (mtDNA), by exploiting the aspecificity of probes, partially overlapping to Nuclear mitochondrial Sequences (NumtS). The 1000 Genomes project represents one of the widest resources to extract mtDNA sequences from WES data, considering the large effort the scientific community is undertaking to reconstruct human population history using mtDNA as marker, and the involvement of mtDNA in pathology.

Results

A previously published pipelin

SUBMITTER: Diroma MA 

PROVIDER: S-EPMC4083402 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature