MitoSeek: extracting mitochondria information and performing high-throughput mitochondria sequencing analysis

Area of Science:

• Genomics
• Bioinformatics

Background:

• Exome capture kits yield 40-60% efficiency, with significant off-target reads from the mitochondrial genome.
• Unintentionally sequenced mitochondrial reads offer a valuable resource for studying the mitochondrial genome.

Purpose of the Study:

• To introduce MitoSeek, an open-source software tool for extracting mitochondrial genome information from sequencing data.
• To enable reliable and easy analysis of mitochondrial DNA from exome and whole genome sequencing.

Main Methods:

• MitoSeek processes exome and whole genome sequencing data.
• The tool evaluates mitochondrial genome alignment quality.
• It estimates relative mitochondrial copy numbers and detects heteroplasmy, somatic mutations, and structural variants.

Main Results:

• MitoSeek reliably extracts mitochondrial genome information.
• The software assesses alignment quality, copy number, and detects various mitochondrial DNA alterations.
• MitoSeek supports parallel and serial processing for large datasets.

Conclusions:

• MitoSeek provides a robust solution for leveraging off-target reads to study the mitochondrial genome.
• This tool enhances the utility of exome and whole genome sequencing data for mitochondrial research.