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  • International Research Team Develops Consensus Variant Classification Guidelines for Genomic Variants in Mitochondrial DNA

    October 20, 2020 Dr. Lishuang SHEN 0

    International Research Team Develops Consensus Variant Classification Guidelines for Genomic Variants in Mitochondrial DNA

    Published on Oct 06, 2020 in CHOP News

    A team of researchers in the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia (CHOP) led an international effort to standardize how variants in mitochondrial DNA (mtDNA) are interpreted, detailing the unique aspects of the mtDNA genome and outlining when specific variants may cause medical problems when detected in a patient. Their work was published this month in the journal Human Mutation.

    Marni Falk, MD

    Marni Falk, MD

    “This work represents the culmination of several years of collaboration by global leaders in mtDNA genomics and disease, all aimed at improving the ability of labs and clinicians around the world to more accurately diagnose patients with mtDNA-based mitochondrial disease,” said Marni Falk, MD, Professor and Executive Director of the Mitochondrial Medicine Frontier Program at CHOP and senior author of this study.

    Marni Falk, MD:

    “To address this ongoing issue, an international working group of mtDNA experts was assembled within the Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium. The research team obtained Expert Panel status from ClinGen, a central resource funded by the National Institutes of Health (NIH) to define the clinical relevance of genes and variants reported in the literature and in the centralized NIH ClinVar database, and clarify their applications in precision medicine and research.”

    Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

    First published: 09 September 2020  https://doi.org/10.1002/humu.24107
    Authors:
    Elizabeth M. McCormick  
    Marie T. Lott  
    Matthew C. Dulik  
    Lishuang Shen  
    Marcella Attimonelli  
    Ornella Vitale  
    Amel Karaa  
    Renkui Bai  
    Daniel E. Pineda‐Alvarez  
    Larry N. Singh  
    Christine M. Stanley  
    Stacey Wong  
    Anshu Bhardwaj  
    Daria Merkurjev  
    Rong Mao  
    Neal Sondheimer  
    Shiping Zhang  
    Vincent Procaccio  
    Douglas C. Wallace  
    Xiaowu Gai  
    Marni J. Falk 
     

    Categories: MSeqDr.org News, updates, media report

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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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