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MSeqDR- the Mitochondrial Disease Sequence Data Resource ConsortiumMSeqDR – Mitochondrial disease diagnosis with new technology
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    Submission

     

    • Full Study: Create
    • Full Study: Manage
    • Submit Variants
    • Complete Submit
    • Instructions

    Major steps of new study and pathogenic variant submission

     There are two tracks of variant data submission:

     1. Quick batch or single pathogenic variant submission:

        Login, this is required.

        Pathogenic variant submission, use VCF/HGVS input format, then manage and complete annotations per variant.

     2. Full submission with study and optional patient data:

        Login, this is required.

        Submit New Study, compatible with ClinVar’s specifications. Then upload VCF, HGVS and other supporting files.

               You may use existing study as template, then follow the step-by-step work flow.

       Optional: Submit patient information in LOVD , or Phenotips

        Pathogenic variant submission, use VCF/HGVS input format, then manage and complete annotations per variant.

     

     3. After submission, variants will be published according to access policy after MSeqDR review.

        Manage and complete annotations of your saved variants.

        OR: View/Edit variant in LOVD, where any user can enhance variant annotations with :

              Quick add-on annotation.

              ClinVar style full annotation.

     

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

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Tag Cloud

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

Pages

  • Blog
  • Calendar
  • Clinical
  • Contact
  • Events
    • Categories
    • Locations
    • My Bookings
    • Tags
  • GBrowse
  • Genesis
  • Home
  • Issue Entry
  • JS Support Ticket
  • MSeqDR PhenoTips
  • MSeqDR-LSDB
  • Our Team
  • Phenome
  • Search Issues
  • Site map
  • Submission
  • Tools

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