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)


  •  October 1, 2019 Mondo Disease Ontology is coming to MSeqDR
  •   Disease Portal for mitochondrial diseases received more disease entries
  •  June 12, 2019 MSeqDR to present tutorial workshop for the 5th year on June 29, at the UMDF Mitochondrial Medicine Symposium
  •  May 23, 2019 mvTool v3: Added variant data from 40,000 people, Asians and Sadinians, meta-AF reference, new single variant report
  •  January 31, 2019 Leigh Syndrome Resources at
  •  November 16, 2018 MSeqDR’s ClinVar style variant submission system supports ClinVar template v4.2 (2018.08)
  •  October 17, 2018 MSeqDR mvTool Documentation
  •  September 24, 2018 Quick-Mitome is updated with Exomiser V10.1, ID de-identification, WES and WGS data support
  •  August 2, 2018 ClinVar style variant submission and curation system version 2 is released
  •  July 30, 2018 The “Mitochondrial Disease Variant Curation Expert Panel” by MSeqDR Consortium

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