MSeqDR Clinical Date and Tool Portal - Capture, Standardize and Utilise Clinical and Phenotype Data
Complete 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 at the standalone 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. Quickmitome 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 (xgai@chla.usc.edu).
Technical and website: Dr. Lishuang Shen (lishen@chla.usc.edu)
MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA
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