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

    A global effort, 100+ mitochondrial disease experts.

    Securely collects and shares data for rare diseases, patients and causative mutations.

    Tools designed for mitochondrial diseases and mtDNA mutations. 

    MSeqDR Demo Account: User: UMDF15 , Password: Mito15
    mseqdr new tool Expert Panel Recruiting: MSeqDr is organizing an expert panel for mitochondrial diseases and pathogenic variants. Welcome to share your expertise.

    MSeqDR Clinical Tool Portal – Capture and Utilise Standardized Phenotype Data Using Core Symptoms

     mseqdr  MitoGenome Diagram with both HGNC and Classical Mito. Gene names side-by-side: pdf  png   tiff (600dpi) 

    MSeqDR Tutorial at UMDF Mitochondrial Medicine 2017 Washington DC  ( PDF)  

    MSeqDR Tutorial at UMDF Regional Symposium 2017, St Louis  ( PDF )

    Join Our LinkedIn Group:  MSeqDR – Mitochondrial Disease Resource  create

    Statistics Diseases:  229 Genes: 1608 Variants: 14091/11900create mtDNA Tracks: 22 Most Studied Leigh, CPEO,  LHON, MELAS, Myopathy, SANDO  

    • createNews
    • Team
    • Documentation
    • Tutorial
    • UMDF’16 Workshop
    • UMDF’15 Workshop
    • SIMD’15 Workshop
    • Contact & Feedback

    Tools

    mtDNA Tool:

    •    mvTool
    •    Phy-Mer
    •    MToolBox
    •    mvTool for Haplogroup
    •    mvTool with HmtDB
    •    MT.AT
    •    MitoMaster
    •    MitoTIP tRNA Scoring
    • Variant Tool:
    •    VariantOneStop
    • Quick-Mitome
    • Quick-Mitome-Report
    •    Exome Priori. Result
    •    HBCR Exome
    • POLG Patho. Server
    • Data – Awsomics GeEx
    • Expert Panel
    • Panel Tool:
    •    Gene Panel Examiner
    •    Transgenomic_NuclearMitome
    • Pedigree Maker
    • json2table
    • pdf2table
    • GENOMIT is an E-Rare funded network of eight partners in Germany, Austria, Italy, France, and USA

    Phenome

    • Disease Portal
    • HPO Ontology Browser
    • Core Symptoms (draft)
    • NAMDC-HPO Mapping
    • Expert Panel
    • Clinical
    • Overview
    • Leigh Syndrome Resource

    Submission to MSeqDR

    • Full Study: Create
    • Full Study: Manage
    • Submit Variant
    • Interpret_Variant
    • Instructions

Recent Posts

  • 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
  • MSeqDr joins FAIRsharing – A curated resource on data and metadata standards
  • Quick-Mitome version 2 with new annotations, workflow, and tutorial
  • Mondo Disease Ontology is coming to MSeqDR, Disease Portal received more disease entries

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Tag Cloud

Recent Posts

  • 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
  • MSeqDr joins FAIRsharing – A curated resource on data and metadata standards
  • Quick-Mitome version 2 with new annotations, workflow, and tutorial
  • Mondo Disease Ontology is coming to MSeqDR, Disease Portal received more disease entries

Tag Cloud

Pages

  • Blog
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  • 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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