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 (Retired)

  •  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)


  •  March 26, 2021 Preclinical Study Shows Combination of Vitamins, Supplements May Benefit Mitochondrial Disease
  •  February 22, 2021 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
  •  January 1, 2021 MSeqDR is migrated to a new webserver at CHLA
  •  October 20, 2020 International Research Team Develops Consensus Variant Classification Guidelines for Genomic Variants in Mitochondrial DNA
  •  August 24, 2020 mvTool v.5: New report layout and new mtDNA variant data from 200,000 healthy people
  •  July 2, 2020 Recent publications from MSeqDR supported by the UMDF and NIH grants
  •   ClinGen / ClinVar – MSeqDR Working Groups & Expert Panels
  •  June 30, 2020 ClinGen approved the MSeqDR Consortium mitochondrial DNA Sequence Variant Interpretation (SVI) specifications
  •  April 29, 2020 U24 Mitochondrial Diseases Expert Panel is establishing 63 genes’ Leigh Disease associations at ClinGen

    MSeqDR U24 grant (1U24HD093483-01) to perform expert curation for Leigh and Leigh-like syndrome genes and variants