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.

Choose a Tool to Analyze Your Data:
 I have single gene, variant, region, disease, phenotype  I have variants or genes  I have VCF from WES or WGS, and clinical data  I have raw sequence data
Gene MT-ND1, POLG,
Variant: m.8993T>G 1:g.10042757T>C MSCV_0000006 rs3888511 ,
ClinVar: RCV000000015,
Region: M:1-1000
Disease: Leigh syndrome,
Phenotype: Retinopathy
  • Fastq, Fasta, BAM:

  • Haplogroup: Phy-Mer, MToolBox,  MitoMaster

  • Variant Calling & Annotation: MToolBox,  MitoMaster
  • Choose a Tool to Browse MSeqDR Data:
     LSDB: Mutations & Diseases
     Data
     Visualization

  • MSeqDR GBrowse

  •  MitoGenome Diagram with both HGNC and classical gene names: pdf  tiff
  •  Collaboration Teams

    MSeqDR Demo Account: User: UMDF15 , Password: Mito15

     
    mseqdr new tool MSeqDr Expert Panel for mitochondrial diseases and pathogenic variants.

     mseqdr Physician Registry Harmonization with HPO-based CDE from 5 Countries   (Summary by HPO term)

    Australia
    Germany
    Italy
    UK
    USA

  •  October 20, 2020 International Research Team Develops Consensus Variant Classification Guidelines for Genomic Variants in Mitochondrial DNA
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  •  August 24, 2020 mvTool v.5: New report layout and new mtDNA variant data from 200,000 healthy people
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  •  July 2, 2020 Recent publications from MSeqDR supported by the UMDF and NIH grants
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  •   ClinGen / ClinVar – MSeqDR Working Groups & Expert Panels
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  •  June 30, 2020 ClinGen approved the MSeqDR Consortium mitochondrial DNA Sequence Variant Interpretation (SVI) specifications
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  •  April 29, 2020 U24 Mitochondrial Diseases Expert Panel is establishing 63 genes’ Leigh Disease associations at ClinGen
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  •  January 27, 2020 MSeqDr joins FAIRsharing – A curated resource on data and metadata standards
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  •  January 2, 2020 Quick-Mitome version 2 with new annotations, workflow, and tutorial
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  •  October 1, 2019 Mondo Disease Ontology is coming to MSeqDR, Disease Portal received more disease entries
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  •  June 12, 2019 MSeqDR to present tutorial workshop for the 5th year at the UMDF Mitochondrial Medicine Symposium
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    MSeqDR U24 grant (1U24HD093483-01) to perform expert curation for Leigh and Leigh-like syndrome genes and variants