• 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 on June 29, at the UMDF Mitochondrial Medicine Symposium

    Leave a Reply Cancel reply

    You must be logged in to post a comment.

Recent Posts

  • Mondo Disease Ontology is coming to MSeqDR
  • Disease Portal for mitochondrial diseases received more disease entries
  • MSeqDR to present tutorial workshop for the 5th year on June 29, at the UMDF Mitochondrial Medicine Symposium
  • mvTool v3: Added variant data from 40,000 people, Asians and Sadinians, meta-AF reference, new single variant report
  • Leigh Syndrome Resources at MSeqDR.org
  • MSeqDR’s ClinVar style variant submission system supports ClinVar template v4.2 (2018.08)
  • MSeqDR mvTool Documentation
  • Quick-Mitome is updated with Exomiser V10.1, ID de-identification, WES and WGS data support
  • ClinVar style variant submission and curation system version 2 is released
  • The “Mitochondrial Disease Variant Curation Expert Panel” by MSeqDR Consortium

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

  • Mondo Disease Ontology is coming to MSeqDR
  • Disease Portal for mitochondrial diseases received more disease entries
  • MSeqDR to present tutorial workshop for the 5th year on June 29, at the UMDF Mitochondrial Medicine Symposium
  • mvTool v3: Added variant data from 40,000 people, Asians and Sadinians, meta-AF reference, new single variant report
  • Leigh Syndrome Resources at MSeqDR.org
  • MSeqDR’s ClinVar style variant submission system supports ClinVar template v4.2 (2018.08)
  • MSeqDR mvTool Documentation
  • Quick-Mitome is updated with Exomiser V10.1, ID de-identification, WES and WGS data support
  • ClinVar style variant submission and curation system version 2 is released
  • The “Mitochondrial Disease Variant Curation Expert Panel” by MSeqDR Consortium

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