helixmtdb

helixmtdb 0.0.1

HelixMTdb, the Helix Mitochondrial Database, is a comprehensive, publicly available resource hosted at https://www.helix.com/mitochondrial-variant-database by Helix, a population genomics company. It aggregates de-identified mitochondrial DNA (mtDNA) variants from over 195,000 unrelated individuals sequenced through Helix’s Exome+ assay, offering one of the largest datasets of its kind. Users can access population frequency data for mtDNA variants, downloadable as a TSV file, to annotate genetic variations and study their distribution across diverse populations. Developed from a study published in bioRxiv (Bolze & Mendez et al., 2019), HelixMTdb supports research into mitochondrial genetics, evolutionary studies, and disease associations by providing variant frequencies without phenotypic selection bias. The database is updated periodically, with the latest release reflecting data from Helix’s ongoing sequencing efforts, making it a valuable tool for researchers annotating mtDNA variants in health and disease contexts.