MSeqDR 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 workshops

Word , 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