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  • MSeqDR to present tutorial workshop for the 5th year at the UMDF Mitochondrial Medicine Symposium

    June 12, 2019 Dr. Lishuang SHEN 0

    Contents

    • 1  
    • 2 MSeqDR to Present the 5th Live Tutorial at UMDF Mitochondrial Medicine 2019
    • 3 Learn more about MSeqDR at UMDF
    • 4 Web Links and Demo Accounts

     

    MSeqDR to Present the 5th Live Tutorial at UMDF Mitochondrial Medicine 2019

    Date:  Saturday, June 29, 2019:, 7:15AM – 7:45AM

    Presentation:

                           Marni Falk, MD, MSeqDR Organizer; Member, SIMD falkm@email.chop.edu

                            Lishuang Shen, PhD, MSeqDR Developer        Lishen@chla.usc.edu

                            Colleen Clarke, MS, LCGC clarkec@email.chop.edu

                            Elizabeth McCormick, MS, LCGC mccormicke@email.chop.edu

                            Zolkipli Cunningham, Zarazuela, MBChB ZolkipliZ@email.chop.edu

                            Xiaowu Gai, PhD , MSeqDR Co-Organizer xgai@chla.usc.edu

    Date:               Saturday, June 29, 2019

    Time:               7:15AM – 7:45AM pm

    Location         Hilton Alexandria Mark Center, 5000 Seminary Road, Alexandria, VA 22311 USA

    Mitochondrial Medicine 2019: Washington DC
    http://www.umdf.org/symposium/
    Hilton Alexandria Mark Center
    5000 Seminary Road
    Alexandria, VA 22311 USA

    Scientific/Clinical Program: June 26 – June 29, 2019
    Patient/Family and LHON Program: June 27 – June 29, 2019

    Learn more about MSeqDR at UMDF

    Poster #0588: Mitochondrial DNA variant interpretation guidelines

    Poster #0590: Leigh syndrome spectrum gene curation effort

    Poster #0600: MSeqDR updates

     

    Tutorials from previous workshopsWord , PDF , Web page (TBA).Exercise

    Word (TBA) Web page (TBA)
    MSeqDR is described in more details in the publications: 

    MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Shen L et al Hum Mutat. 2016 Jun;37(6):540-548. Pubmed 26919060

    Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Falk MJ, et al. Mol Genet Metab. 2015 Mar;114(3):388-396. Pubmed 25542617

    Workshop Pictures:

    Web Links and Demo Accounts

    Demo Account 1 (both MSeqDR and its Phenotips server):User ID: UMDF15  , Password: Mito15

    MSeqDR Phenotips Demo Account (MSeqDR Phenotips server only):

    User ID: UMDF16  , Password: umdf16

    MSeqDR Phenotips Demo Account (MSeqDR Phenotips server only):

    User ID: DemoMSeqDR, Password: DemoMSeqDR

    LinkedIn Login:  Use your LinkedIn Account to login

     

    MSeqDR server https://mseqdr.org  and  https://mseqdr.org/clinical

    Backup site: https://mseqdr.org/demo  and  https://mseqdr.org/demo/clinical

    MSeqDR Phenotips server:

    MSeqDR PhenoTips  http://mseqdr.org/phenotips/

     

    Part I Variant Submission Example, in HGVS format, for mtDNA, genomic DNA, genes and transcript notations:

    m.15800C>T

    1:g.215821999G>A

    AARS2:c.1774C>T

    NM_178857.5:c.134G>A

    19:g.54621653_54621662del

    This tutorial workshop is the joint effort by:

    MSeqDR  United Mitochodrial Disease Foundation 

    The MSeqDR Consortium and the effort of establishing its resource  at https://mseqdr.org are supported by UMDF fund since 2012, along with fund from the NIH, NAMDC.

    Categories: MSeqDr.org News, updates, media report

    mvTool v3: Added variant data from 40,000 people, Asians and Sadinians, meta-AF reference, new single variant report Mondo Disease Ontology is coming to MSeqDR, Disease Portal received more disease entries

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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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