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    MSeqDR Consortium Organization

    WORKING GROUP 1: TECHNOLOGY AND BIOINFORMATICS

    • WG1 Co-Chairs: Marni Falk, MD (CHOP/Upenn), Xiaowu Gai, PhD (chla), Curt Scharfe, MD, PhD (Stanford)
    • WG1 Advisors: Lisa Brooks, PhD (NHGRI), Deanna Church, PhD (NCBI, NIH)

    WORKING GROUP 2: PHENOTYPING, DATABASING, IRB CONCERNS, AND ACCESS

    • WG2 Co-Chairs: Patrick Chinnery, MD, PhD (Newcastle), Lee-Jun Wong, PhD (Baylor), and Peter White, PhD (CHOP/Penn)
    • WG2 Advisors: Donna Maglott, PhD (NCBI, NIH) and Yaffa Rubinstein, PhD (NCATS, ORDR)

    WORKING GROUP 3: MITOCHONDRIAL DNA SPECIFIC CONCERNS

    • WG3 Co-Chairs: Vincent Procaccio, PhD (Angers) and Douglas Wallace, PhD (CHOP/Upenn)
    • WG3 Advisor: Richard Cotton, PhD (Melbourne/Human Variome Project)

    Bioinformatician

    Dr. Lishuang Shen: Database and website development and administration.

    MSeqDR Prototype Development

    • Leaders: Marni Falk, MD (CHOP), Xiaowu Gai, PhD (CHLA), Stephan Zuchner, MD (Miami)
    • International participation of Mito Disease clinicians and researchers generating and analyzing whole exome data: Holger Prokisch (Germany), Marcella Attimonelli (Italy), Mark Tarnopolsky Canada), Eric Shoubridge Canada), Grant Mitchell , Isabella Thiffault (Canada), David Thorburn (Australia), Anu Sumolainen-Wartiovaara (Finland), Patrick Chinnery (Newcastle, UK), Yasushi Okazaki (Japan).
    • Dedicated MSeqDR bioinformatician, funded jointly by UMDF and NAMDC, will establish MSeqDR website and tools, data file handling, comparative analyses of bioinformatics pipelines, extract/link phenotypic data from NAMDC patient registry, perform common reannotation of all exome data to deposit and mine in user friendly web interface.

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

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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

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