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  • MSeqDR has Tripled the LSDB Variants to 11,800 since UMDF 2017

    July 1, 2018 Dr. Lishuang SHEN 0

    MSeqDR Tripled the MSeqDR-LSDB Variants since Mitochondrial Medicine 2017

    MSeqDR-LSDB Data Added:

    8000+ Pathogenicity Assessed Variants , Total: 11,800

    40 more Mitochondrial Diseases, complied from OMIM and other literature, Total: 225

    20 more Mitochondrial Diseases Related Genes, Total 1607

    LSDB Status

    The LOVD back-end is updated to V.21 (April, 2018)

    The results are presented at the Mitochondrial Medicine 2018, Nashville, TN

    MSeqDR Tripled LSDB Variants since UMDF 2017

    MSeqDR Tripled LSDB Variants since UMDF 2017
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    Categories: MSeqDr.org News, updates, media report

    New publications on clinical review of mitochondrial disease, in Current Genetic Medicine Reports MSeqDR presented the 4th year tutorial workshop, at the UMDF Mitochondrial Medicine Symposium

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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

Tag Cloud

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