gnoMAD shares mtDNA variant data from 56,434 whole genome samples
February 22, 2021 Dr. Lishuang SHEN 0
We the MSeqDR team is delghted to announce the addition of the gnoMAD mtDNA variant data from 56,434 whole genome samples.
This high-quality, expert-curated dataset will be a must-go reference population dataset for the community.
We gratefully acknowledge the gnoMAD team, the authors, and the originating and submitting laboratories of the genomic sequence data made available.
The description by the gnoMAD team:
“Mitochondrial DNA (mtDNA) variants for gnomAD are now available for the first time! We have called mtDNA variants for 56,434 whole genome samples in the v3.1 release. This initial release includes population frequencies for 10,850 unique mtDNA variants defined at more than half of all mtDNA bases. The vast majority of variant calls (98%) are homoplasmic or near homoplasmic, whereas 2% are heteroplasmic.”
The gnoMAD data is integrated to the mvTool, our Universal mtDNA Variant Converter and One Stop Annotation
The data is displayed as columns:
gnomad_AN, gomad_AC_hom, gnomad_AC_het, gnomad_AF_hom, gnomad_AF_het, gnomad_max_heteroplasmy
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