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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

    mseqdr 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

    Alexandre Bolze, Fernando Mendez, Simon White, Francisco Tanudjaja, Magnus Isaksson, Misha Rashkin, Johnathan Bowes, Elizabeth T. Cirulli, William J. Metcalf, Joseph J. Grzymski, William Lee, James T. Lu, Nicole L. Washington
    doi: https://doi.org/10.1101/798264 
     
    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.

     

    Categories: MSeqDr.org News, updates, media report

    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

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Recent Posts

  • Preclinical Study Shows Combination of Vitamins, Supplements May Benefit Mitochondrial Disease
  • gnoMAD shares mtDNA variant data from 56,434 whole genome samples
  • mvTool v.6: The mtDNA variant reference based on 316,530 whole genome sequences
  • MSeqDR is migrated to a new webserver at CHLA
  • International Research Team Develops Consensus Variant Classification Guidelines for Genomic Variants in Mitochondrial DNA
  • mvTool v.5: New report layout and new mtDNA variant data from 200,000 healthy people
  • Recent publications from MSeqDR supported by the UMDF and NIH grants
  • ClinGen / ClinVar – MSeqDR Working Groups & Expert Panels
  • ClinGen approved the MSeqDR Consortium mitochondrial DNA Sequence Variant Interpretation (SVI) specifications
  • U24 Mitochondrial Diseases Expert Panel is establishing 63 genes’ Leigh Disease associations at ClinGen

Tag Cloud

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