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.

 
MSeqDR Demo Account: User: UMDF15 , Password: Mito15

MSeqDR: the Mitochondrial Disease Sequence Data Resource Consortium

Choose a Tool to Analyze Your Data:  I have a 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  Genomic Search Disease: OMIM Disease: HPO  Gene MT-ND1, POLG,  Variant: m.8993T>G 1:g.10042757T>CMSCV_0000006 rs3888511 ,  ClinVar: RCV000000015,  Region: M:1-1000  Disease: Leigh syndrome,  Phenotype: Retinopathy Variant Annotation:  mvTool (mtDNA)***OneStopVariant (mtDNA+ nuc. DNA)   Haplogroup: Phy-Mer   Gene Annotation:  Panel Examiner & Universal ID Mapper Quick-Mitome Interpretation with Exomiser and HPO   HPO Mapping from Clinical Text   Disease Browser, HPO Browser Fastq, Fasta, BAM:  Haplogroup: Phy-Mer, MToolBox   Variant Calling & Annotation: MToolBox Choose a Tool to Browse MSeqDR Data:  LSDB: Mutations & Diseases  Genes View Add   Mitochondrial Disease Add   Genomic Variants Add   LSDB Statistics  Diseases: 229 , Variants: 14096/11997, Genes: 1607 , mtDNA Tracks: 22   Advanced Users  Data  Disease Browser (Leigh, LHON, CPEO, MELAS, Myopathy …)   HPO Phenotype Browser   Haplogroups: PhyloTree & mvTool   Expression Data: Awsomics GeEx   Patients & Subjects  Visualization    MSeqDR GBrowse    MitoGenome Diagram with both HGNC and classical gene names: pdf tiff  Collaboration Teams    MSeqDR mtDNA Expert Panel   U24 for Leigh Disease   MSeqDR Phenotype CDE   Scientific and Medical Advisory Board (SMAB) of UMDF MSeqDR Demo Account: User: UMDF15 , Password: Mito15    MSeqDr Expert Panel for mitochondrial diseases and pathogenic variants.   Physician Registry Harmonization with HPO-based CDE from 5 Countries   (Summary by HPO term) Australia Germany Italy UK USA    January 31, 2019 Leigh Syndrome Resources at MSeqDR.org     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

Expert Panel Recruiting: MSeqDr is organizing an expert panel for mitochondrial diseases and pathogenic variants. Welcome to share your expertise.

MSeqDR Clinical Tool Portal – Capture and Utilise Standardized Phenotype Data Using Core Symptoms

   MitoGenome Diagram with both HGNC and Classical Mito. Gene names side-by-side: pdf  png   tiff (600dpi)

MSeqDR Tutorial at UMDF Mitochondrial Medicine 2017 Washington DC  ( PDF)  

MSeqDR Tutorial at UMDF Regional Symposium 2017, St Louis  ( PDF )

Statistics Diseases:  229 Genes: 1608 Variants: 14091/11900 mtDNA Tracks: 22 Most Studied Leigh, CPEO,  LHON, MELAS, Myopathy, SANDO  

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