gnomad3-mito

gnomad3-mito 0.0.1-3.1.2

The gnomAD v3 Mitochondrial Data, part of the Genome Aggregation Database (gnomAD), is a pioneering resource hosted at https://gnomad.broadinstitute.org/, providing mitochondrial DNA (mtDNA) variant data from 56,434 whole-genome sequences in the gnomAD v3.1 release (November 2020). Developed by the Broad Institute and collaborators, it addresses unique challenges in mtDNA analysis, such as detecting homoplasmic (all mtDNA molecules) and heteroplasmic (fraction of mtDNA molecules) variants, handling the circular mtDNA genome, and avoiding misalignment from nuclear mitochondrial sequences (NUMTs). The dataset includes population frequencies for 10,850 unique mtDNA variants across more than half of the 16,569 bp mitochondrial genome, covering diverse ancestries: European (58%), African (25%), Latino (10%), and Asian (5%). Users can annotate variants with haplogroup-specific frequencies, heteroplasmy levels (≥10%), and predicted consequences, accessible via the gnomAD browser or downloadable VCFs. This resource enhances mtDNA variant interpretation for research into mitochondrial diseases and human evolution, with stringent filters ensuring high-quality calls by excluding low mtDNA copy number samples and contaminants.