Published on in CHOP News
Clinicians and researchers in mitochondrial disease now can access a new, one-stop bioinformatics tool that collects annotated data on mitochondrial DNA (mtDNA) variants. The web-based resource provides user-friendly information to assist healthcare providers in identifying specific genetic diagnoses, while at the same time offering specialists in bioinformatics a powerful informatics tool for programmatic usage.
Experts from Children's Hospital of Philadelphia (CHOP) and colleagues reported on the MSeqDR mtDNA Variant Tool set, or mvTool, in a recent issue of the journal Human Mutation. The tool accounts for the diversity of mtDNA variant nomenclatures, and the existence of multiple reference mtDNA genomes, converting variant terms into standardized ones. It also incorporates data on reference population frequencies for mtDNA variants. mvTool builds on existing knowledge and resources within the Mitochondrial Disease Sequence Data Resource and MITOMAP, the human mitochondrial genome database.
Find mvTool at https://mseqdr.org/mvtool.php.