-
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 world studying a patient with a similar genetic makeup. Working together, in a matter of minutes they can pinpoint the genetic mutations that may explain the rare disease that their patients have in common”.
Categories: Uncategorized
MSeqDR News CSH Molecular Case Studies Designates MSeqDR for Manuscript Variant Submission
- Project Update: MSeqDR-Genesis and Dr. Marni Falk are featured in the 2015 CHOP Annual Report, The Children’s Hospital of Philadelphia .
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