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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
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
News
- Team
- Documentation
- Tutorial
- UMDF’16 Workshop
- UMDF’15 Workshop
- SIMD’15 Workshop
- Contact & Feedback
Tools
mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MT.AT
- MitoMaster
- MitoTIP tRNA Scoring
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- Exome Priori. Result
- HBCR Exome
- POLG Patho. Server
- Data – Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
- pdf2table
Recent Posts
- MSeqDR is migrated to a new webserver at CHLA
- International Research Team Develops Consensus Variant Classification Guidelines for Genomic Variants in Mitochondrial DNA
- mvTool v.5: New report layout and new mtDNA variant data from 200,000 healthy people
- Recent publications from MSeqDR supported by the UMDF and NIH grants
- ClinGen / ClinVar – MSeqDR Working Groups & Expert Panels
- ClinGen approved the MSeqDR Consortium mitochondrial DNA Sequence Variant Interpretation (SVI) specifications
- U24 Mitochondrial Diseases Expert Panel is establishing 63 genes’ Leigh Disease associations at ClinGen
- MSeqDr joins FAIRsharing – A curated resource on data and metadata standards
- Quick-Mitome version 2 with new annotations, workflow, and tutorial
- Mondo Disease Ontology is coming to MSeqDR, Disease Portal received more disease entries