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MSeqDR- the Mitochondrial Disease Sequence Data Resource ConsortiumMSeqDR – Mitochondrial disease diagnosis with new technology
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  • Expert Panel Recruiting

    December 13, 2016 Dr. Lishuang SHEN 0

    2016-09-25 Expert Panel Recruiting: MSeqDr is organizing an expert panel for mitochondrial diseases and pathogenic variants. Welcome to share your expertise. Please visit the site to see current panel members, tools and document  

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  • New tool set: Phenotype-Guided Exome Prioritization with HPO and Exomiser

    December 13, 2016 Dr. Lishuang SHEN 0

    2016-09-25 New tool set: Phenotype-Guided Exome Prioritization with HPO and Exomiser, with free text translation from medical record to HPO terms, batch run of variant prioritization,enhanced annotation, and result management  

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  • MSeqDR – UMDF Workshop, as the concluding program of Mitochondrial Medicine 2016

    December 13, 2016 Dr. Lishuang SHEN 0

    2016-06-18 MSeqDR – UMDF Workshop, as the concluding program of Mitochondrial Medicine 2016, Seattle, 06/18/2016  

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  • New MSeqDR Publication in Human Mutation

    December 13, 2016 Dr. Lishuang SHEN 0

    2016-05-12 New Publication: MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease Hum Mutat. 2016 Jun;37(6):540-8. doi: 10.1002/humu.22974. Epub 2016 Mar 21., Pubmed 26919060 Lishuang Shen, Maria Angela Diroma, Michael Gonzalez, Daniel Navarro-Gomez, Jeremy Leipzig, Marie T Lott, Mannis van Oven, Douglas C Wallace, Colleen Clarke Muraresku, Zarazuela […]

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  • New MSeqDR Publication

    December 13, 2016 Dr. Lishuang SHEN 0

    2016-05-09 New MSeqDR Publication: COMMENTARY: From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic…the Mitochondrial Disease Sequence Data Resource (MSeqDR; https://mseqdr.org ). This multidimensional data resource aims… Authors: Marni J. Falk, Lishuang Shen, Xiaowu Gai Cold Spring Harb Mol Case Studies May 2016, 2: a001065 Full Text, Full […]

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  • CSH Molecular Case Studies Designates MSeqDR for Manuscript Variant Submission

    December 13, 2016 Dr. Lishuang SHEN 0

    2016-02-12 Project Update: CSH Molecular Case Studies Designates MSeqDR for Manuscript Variant Submission. MSeqDR.org will serve as a permanent site to host the pathogenic variants associated with manuscripts to “CSH Molecular Case Studies”. Novel disease genes and variants can be added to MSeqDR-LSDB. A custom MSeqDR accession number is assigned to all annotated pathogenic variants […]

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  • MSeqDR-Genesis and Dr. Marni Falk are featured in the 2015 CHOP Annual Report

    December 13, 2016 Dr. Lishuang SHEN 0

    2016-02-09 Project Update: MSeqDR-Genesis and Dr. Marni Falk are featured in the 2015 CHOP Annual Report, The Children’s Hospital of Philadelphia . It’s also highlighted in the CSO’s last bullet point: “Find out how a curious researcher contemplating a seemingly unsolvable patient case can reach out to another investigator on the opposite side of the […]

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  • MSeqDR News

    December 10, 2016 Dr. Lishuang SHEN 1

    MSeqDR News

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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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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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