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 rs3888511 ,
ClinVar: RCV000000015,
Region: M:1-1000
Disease: Leigh syndrome,
Phenotype: Retinopathy
  • Fastq, Fasta, BAM:

  • Haplogroup: Phy-Mer, MToolBox

  • Variant Calling & Annotation: MToolBox
  • 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
     
    MSeqDR Tutorial at UMDF Mitochondrial Medicine 2017 Washington DC  ( PDF)

  •  July 13, 2018 MSeqDR presented the 4th year tutorial workshop, at the UMDF Mitochondrial Medicine Symposium
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  •  July 1, 2018 MSeqDR has Tripled the LSDB Variants to 11,800 since UMDF 2017
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  •  May 2, 2018 New publications on clinical review of mitochondrial disease, in Current Genetic Medicine Reports
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  •  March 27, 2018 New MSeqDR publication: MSeqDR mvTool: A mitochondrial DNA web and API resource
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  •  February 7, 2018 New tool set: Quick-Mitome – Phenotype-Guided WES and WGS Variant Interpretation
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  •   Tool update: mvTool V.2 – mtDNA variant annotation and analysis web-service with API
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  •  February 5, 2018 Invitation: Join MSeqDR – UMDF Workshop, 06/30/2018 at Mitochondrial Medicine 2018
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  •   Mitochondrial biology conferences 2018
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  •  September 25, 2017 MSeqDR Gene Panel Examiner and Universal Gene ID Mapper
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  •   mvTool V2 – Universal mtDNA Variant Converter and One Stop Annotation
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    Tool update: Haplogroup classifier (Phy-mer) supports 7 mtDNA variant nomencatures (vcf, hgvs, classical).


    New grant: MSeqDR U24 grant to perform expert curation for Leigh syndrome