mvTool v3: Added variant data from 40,000 people, Asians and Sadinians, meta-AF reference, new single variant report
May 23, 2019 Dr. Lishuang SHEN 0
mvTool v3: Added variant data from 40,000 people, Asians and Sardinians, meta AF reference, new single variant report
Added over mtDNA variant data from over 40,000 people, derived from multiple Asian and other populations. Of note is the Japanese population allele frequency panel of 3,552 individuals (3.5KJPNv2 https://jmorp.megabank.tohoku.ac.jp).
MSeqDR constructed the meta-population AF reference, which provide position-specific variant information for up to 90,000 people at some positions.
Data was derived from mito-WGS, or from WES (Details in separate text).
For single variant annotation, a new report button supports converting of the annotation into vertical tables for alternative view in different directions.
Categories: MSeqDr.org News, updates, media report
- 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
- MSeqDR to present tutorial workshop for the 5th year at the UMDF Mitochondrial Medicine Symposium