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Quick-Mitome version 2 with new annotations, workflow, and tutorial
January 2, 2020 Dr. Lishuang SHEN 0
Quick-Mitome version 2 with new annotations, workflow, and Quick-Mitome tutorial
A Phenotype-Guided WES/WGS Variant Interpretation Server for Mitochondrial Diseases
Categories: MSeqDr.org News, updates, media report
Mondo Disease Ontology is coming to MSeqDR, Disease Portal received more disease entries MSeqDr joins FAIRsharing – A curated resource on data and metadata standards
Recent Posts
- Preclinical Study Shows Combination of Vitamins, Supplements May Benefit Mitochondrial Disease
- 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
- 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