MSeqDR Clinical Tool Portal – Capture and Utilise Standardized Phenotype DataComplete PhenoTips Work Flow Starting from Patient Clinical Data:
- 1. Create MSeqDR Account, then create another account in MSeqDR stand alone PhenoTips server with same user ID/password (Help).
- 2. Log on to MSeqDR PhenoTips server to enable PhenoTips APIs and data exchange.
- 3a. Single case, new patient data recording in stand alone MSeqDR PhenoTips server.
- 3b. Batch Import from Sample Sheet as csv/tab-delimited file.
- 4. Push2PhenoTips pushes selected sample from list into PhenoTips for editing, and adding clinical description with phenotype ontology (HPO)
- The MSeqDR tool: Automatically assigns unique MSeqDR SID to each selected patient.
- The MSeqDR HPO Annotator, Monarch Text Annotator: Maps clinical descriptions to HPO terms or diseases.
- 5. Exome Variant Prioritization for Mendelian disease using uploaded VCF and clinical data.
Contact Us: Online submission: https://mseqdr.org/feedback.php. Email: Coordinator:Dr. Marni Falk (FALKM@email.chop.edu) and Dr. Xiaowu Gai (email@example.com). Technical and website: Dr. Lishuang Shen (firstname.lastname@example.org)
- 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
- MSeqDr joins FAIRsharing – A curated resource on data and metadata standards
- Quick-Mitome version 2 with new annotations, workflow, and tutorial
- Mondo Disease Ontology is coming to MSeqDR, Disease Portal received more disease entries