-
MSeqDR presented the 4th year tutorial workshop, at the UMDF Mitochondrial Medicine Symposium
July 13, 2018 Dr. Lishuang SHEN 0
MSeqDR team presented the 4th year tutorial workshop, at the UMDF Mitochondrial Medicine Symposium
Location: Nashville, TN
Date: June 30, 2018
Team Members:
Lishuang Shen, PhD; Xiaowu Gai, PhD
Children’s Hospital of Los Angeles
Colleen C. Muraresku, MS, LCGC; Elizabeth M. McCormick, MS, LCGC;
Zarazuela Zolkipli-Cunningham, MBChB MRCP; Amy Goldstein, MD; Marni J. Falk, MD
Children’s Hospital of Philadelphia
Mitochondrial Medicine Frontier Program
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
MSeqDR has Tripled the LSDB Variants to 11,800 since UMDF 2017 The “Mitochondrial Disease Gene Curation Expert Panel” by MSeqDR Consortium
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