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 (firstname.lastname@example.org). Technical and website: Dr. Lishuang Shen (email@example.com)
- MSeqDR to present tutorial workshop for the 5th year on June 29, at the UMDF Mitochondrial Medicine Symposium
- mvTool v3: Added variant data from 40,000 people, Asians and Sadinians, meta-AF reference, new single variant report
- Leigh Syndrome Resources at MSeqDR.org
- MSeqDR’s ClinVar style variant submission system supports ClinVar template v4.2 (2018.08)
- MSeqDR mvTool Documentation
- Quick-Mitome is updated with Exomiser V10.1, ID de-identification, WES and WGS data support
- ClinVar style variant submission and curation system version 2 is released
- The “Mitochondrial Disease Variant Curation Expert Panel” by MSeqDR Consortium
- The “Mitochondrial Disease Gene Curation Expert Panel” by MSeqDR Consortium
- MSeqDR presented the 4th year tutorial workshop, at the UMDF Mitochondrial Medicine Symposium