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

  • 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)

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