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mvTool v.5: New report layout and new mtDNA variant data from 200,000 healthy people
August 24, 2020 Dr. Lishuang SHEN 0
mvTool_v.5 – Universal mitochondrial DNA Variant Converter and One-Stop Annotation:Added mitochondrial DNA variant data from HelixMTdb for 196,554 unrelated healthy individuals, which includes 15,035 unique variants. The HelixMTdb database reflects aggregated and de-identified mitochondrial DNA variants observed in individuals sequenced at Helix:
Selective constraints and pathogenicity of mitochondrial DNA variants inferred from a novel database of 196,554 unrelated individuals
MSeqDR constructs the mtDNA meta-population allele frequency reference, which provides position-specific variant information for up to 290,000 individuals at some positions. The maximum WGS coverage is 260,096, the maximum WGS+WES coverage is 290,000. Data were derived from mito-WGS or from WES.The mvTool mtDNA annotation report is updated in content and layout to reflect the addition of the HelixMTdb data. For single variant annotation, a new report button supports converting the annotation into vertical tables for alternative views in different directions.
Recent publications from MSeqDR supported by the UMDF and NIH grants International Research Team Develops Consensus Variant Classification Guidelines for Genomic Variants in Mitochondrial DNA