MSeqDR PMD Virtual Cases, Clinical Data, and Tools for Clinicians, Scientists, and General Users:
 

• 1. Create MSeqDR Account
• 2. Log on to MSeqDR server to enable data access and upload permission.
• 3. Batch Import from Sample Sheet in csv/tab-delimited formats.
• 4. PMD Case Virtual Registry Case Browser to search and select sample(s) for reporting and curating. Search PMD cases by over 30 clinical and demographci characteristincs, using single or composite filters from them.
• 5. Quick-Mitome Exome/Panel/Genome: Machine-learning empowered variant prioritization for Mendelian disease diagnosis using 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: Dr. Lishuang Shen (lishen@chla.usc.edu ), Bioinformatics Scientist for MSeqDR Consortium

MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA
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