• Blog
  • Calendar
  • Clinical
  • Contact
  • Events
    • Categories
    • Locations
    • My Bookings
    • Tags
  • GBrowse
  • Genesis
  • Home
  • Issue Entry
  • JS Support Ticket
  • MSeqDR PhenoTips
  • MSeqDR-LSDB
  • Our Team
  • Phenome
  • Search Issues
  • Site map
  • Submission
  • Tools
MSeqDR- the Mitochondrial Disease Sequence Data Resource ConsortiumMSeqDR – Mitochondrial disease diagnosis with new technology
  • Home
    • Team
    • Contact
    • Site map
    • Genesis
  • GBrowse
  • MSeqDR-LSDB
  • Tools
    • Events
    • Calendar
    • mtDNA Expert Panel
  • Phenome
  • Clinical
  • Submission
  • MSeqDR PhenoTips
  • Blog
Menu
  • Home
    • Team
    • Contact
    • Site map
    • Genesis
  • GBrowse
  • MSeqDR-LSDB
  • Tools
    • Events
    • Calendar
    • mtDNA Expert Panel
  • Phenome
  • Clinical
  • Submission
  • MSeqDR PhenoTips
  • Blog
  • 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

    Leigh Syndrome Resources at MSeqDR.org MSeqDR to present tutorial workshop for the 5th year at the UMDF Mitochondrial Medicine Symposium

    Leave a Reply Cancel reply

    You must be logged in to post a comment.

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

Pages

  • Blog
  • Calendar
  • Clinical
  • Contact
  • Events
    • Categories
    • Locations
    • My Bookings
    • Tags
  • GBrowse
  • Genesis
  • Home
  • Issue Entry
  • JS Support Ticket
  • MSeqDR PhenoTips
  • MSeqDR-LSDB
  • Our Team
  • Phenome
  • Search Issues
  • Site map
  • Submission
  • Tools

Tag Cloud

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

Tag Cloud

Pages

  • Blog
  • Calendar
  • Clinical
  • Contact
  • Events
    • Categories
    • Locations
    • My Bookings
    • Tags
  • GBrowse
  • Genesis
  • Home
  • Issue Entry
  • JS Support Ticket
  • MSeqDR PhenoTips
  • MSeqDR-LSDB
  • Our Team
  • Phenome
  • Search Issues
  • Site map
  • Submission
  • Tools

Search

Copyright © 2016 MSeqDR: the Mitochondrial Disease Sequence Data Resource Consortium Theme created by PWT. Powered by WordPress.org