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  • mvTools is updated to latest version of MitoMaps, HmtDB and ClinVar Data

    May 17, 2017 Dr. Lishuang SHEN 0

    mvTools is updated to latest version of MitoMaps, HmtDB and ClinVar Data

    The data is current to May 2017.

    MSeqDR already has a mvTool for mtDNA variant reference genome conversion and format conversions, and annotations including VEP, Mitomap, MSeqDR data and dbNSFP (latest v3.4a).   https://mseqdr.org/mv.php

    Users may input variants using one of the 7 red formats below, including position only query. And different formats can be mixed as input:

    HGVS_Committee m.3054G>A
    HGVS_ClinVarNCBI NC_012920.1:m.3054G>A
    HGVS_Ensembl MT:g.3054G>A
    HGVS_Mutalyzer NC_012920.1:g.3054G>A
    VCF  
    Variant 3054A

    Position 3054
       



    Sample input:


    #Sample input of a mixture of multiple mtDNA variant nomenclatures:
    m.8993T>G
    8993G
    T8993G
    3054A
    3066G
    15951G
    15956C
    16205T
    16209A
    chrMT.6328C>T 
    m.13513G>A

     

    Categories: MSeqDr.org News, updates, media report

    MSeqDR Admin, Curation, Development Roadmap mvTool V2 – Universal mtDNA Variant Converter and One Stop Annotation

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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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