MSeqDR Virtual Registry of Deidentified PMD Cases from Publications, Clinical Data, and Tools for Clinicians, Scientists, and General Users:
- 1. Create a MSeqDR Account
- 2. Log on to MSeqDR server to enable data access and upload permission.
- 3. Build your own custome virtual case registry? Or contribute to our Primary Mitochondrial Disease (PMD) Virtual Registry? Batch Import from Sample Sheet in csv/tab-delimited formats.
- 4. PMD Virtual Registry Case Browser: Search and select cases for reporting and curation. Search PMD cases by over 30 clinical and demographical characteristics, using single or composite filters from them.
4.1. OR: Virtual Registry and clinical/phenotype Quick Keyword Search by typing in the top-right search box, by gene, variant, disease, OMIM, phenotype, HPO ID, PubMED ID, etc. Then selct a case from returned popup list.
- 5. Quick-Mitome (Exome/Panel/Genome): Machine-learning empowered variant prioritization for Mendelian disease diagnosis using your uploaded VCF and clinical data. (Paper / PubMed and Tutorial).
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: Email to Dr. Lishuang Shen (lishen@chla.usc.edu or lshen86@gmail.com), Bioinformatics Scientist for MSeqDR Consortium