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mvTools is updated to latest version of MitoMaps, HmtDB and ClinVar Data
May 17, 2017 Dr. Lishuang SHEN 0
mvTools is updated to latest version of MitoMaps, HmtDB and ClinVar Data
The data is current to May 2017.
MSeqDR already has a mvTool for mtDNA variant reference genome conversion and format conversions, and annotations including VEP, Mitomap, MSeqDR data and dbNSFP (latest v3.4a). https://mseqdr.org/mv.php
Users may input variants using one of the 7 red formats below, including position only query. And different formats can be mixed as input:
HGVS_Committee m.3054G>A HGVS_ClinVarNCBI NC_012920.1:m.3054G>A HGVS_Ensembl MT:g.3054G>A HGVS_Mutalyzer NC_012920.1:g.3054G>A VCF Variant 3054A
Position 3054
Sample input:
#Sample input of a mixture of multiple mtDNA variant nomenclatures: m.8993T>G 8993G T8993G 3054A 3066G 15951G 15956C 16205T 16209A chrMT.6328C>T m.13513G>A Categories: MSeqDr.org News, updates, media report
MSeqDR Admin, Curation, Development Roadmap mvTool V2 – Universal mtDNA Variant Converter and One Stop Annotation
Recent Posts
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- 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