New MSeqDR Publication in Human Mutation
December 13, 2016 Dr. Lishuang SHEN 0
- New Publication:
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease Hum Mutat. 2016 Jun;37(6):540-8. doi: 10.1002/humu.22974. Epub 2016 Mar 21., Pubmed 26919060Lishuang Shen, Maria Angela Diroma, Michael Gonzalez, Daniel Navarro-Gomez, Jeremy Leipzig, Marie T Lott, Mannis van Oven, Douglas C Wallace, Colleen Clarke Muraresku, Zarazuela Zolkipli-Cunningham, Patrick F Chinnery, Marcella Attimonelli, Stephan Zuchner, Marni J Falk, Xiaowu Gai.
MSeqDR is the Mitochondrial Disease Sequence Data Resource, a centralized and comprehensive genome and phenome bioinformatics resource built by the mitochondrial disease community to facilitate clinical diagnosis and research investigations of individual patient phenotypes, genomes, genes, and variants. A central Web portal (https://mseqdr.org) integrates community knowledge from expert-curated databases with genomic and phenotype data shared by clinicians and researchers. MSeqDR also functions as a centralized application server for Web-based tools to analyze data across both mitochondrial and nuclear DNA, including investigator-driven whole exome or genome dataset analyses through MSeqDR-Genesis. MSeqDR-GBrowse genome browser supports interactive genomic data exploration and visualization with custom tracks relevant to mtDNA variation and mitochondrial disease. MSeqDR-LSDB is a locus-specific database that currently manages 178 mitochondrial diseases, 1,363 genes associated with mitochondrial biology or disease, and 3,711 pathogenic variants in those genes. MSeqDR Disease Portal allows hierarchical tree-style disease exploration to evaluate their unique descriptions, phenotypes, and causative variants. Automated genomic data submission tools are provided that capture ClinVar compliant variant annotations. PhenoTips will be used for phenotypic data submission on deidentified patients using human phenotype ontology terminology. The development of a dynamic informed patient consent process to guide data access is underway to realize the full potential of these resources.
- New Publication:
- 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