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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
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 USAScientific/Clinical Program: June 26 – June 29, 2019
Patient/Family and LHON Program: June 27 – June 29, 2019Learn 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:
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.
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