Mitoseek: extraction of DNA information

Mitoseek a website that enables extraction of mitochondrial DNA information
 
Due to advances in next generation sequencing a whole genome can be sequenced in a matter of days providing us with immense information on the genome. Also a significant amount sequenced DNA belong to the mitochondrial genome. Although unintentionally sequenced, this information can provide researchers “with unique opportunities to study the mitochondrial genome”. In order to help researchers study the mitochondrial genome effectively, researchers from Vanderbilt University have created of open-source software tool called MitoSeek, accessible at https://github.com/riverlee/MitoSeek. This unique genome analysis tool can “reliably and easily extract mitochondrial genome information from exome and whole genome sequencing data”. Researchers can get myriad types of information including ”mitochondrial genome alignment quality, estimates relative mitochondrial copy numbers, and detects heteroplasmy, somatic mutation, and structural variants of the mitochondrial genome’. Some drawbacks of this software include an ability calculate only relative mtDNA copy number, not absolute copy number of mtDNA and it is more suited “to detecting large copy number variation. Notwithstanding the drawbacks, MitoSeek is a unique software that “creates opportunities for high throughput mitochondrial sequencing data-mining from existing large exome sequencing databases. The algorithm used to construct this website and a short description has been published in detail in a recent article in Bioinformatics.
Consult the PubMed abstract

source: eurordis