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Collaborators are expected to provide high­ quality, appropriately consented DNA samples from patients and family members. The consent form signed by subjects must include language regarding secondary use, data sharing, and deposition into controlled access databases. Matchmaker Exchange The...

Once sequencing data is available on seqr, Broad CMG analysts will work together with collaborators using the seqr framework to identify strong candidate genes and variants. Exome and Whole Genome Sequencing Data Round one of analysis entails identifying candidate variants in known genes associated...

Accepted samples are sequenced at the Broad’s Genomics Platform. After sequencing and processing completes, our project management team will send a notification and reminder to enter in phenotype information. This will be a required step before data can be loaded onto our seqr platform. Once data is...

Collaborators are expected to provide high­ quality, appropriately consented DNA samples from patients and family members. The consent form signed by subjects must include language regarding secondary use, data sharing, and deposition into a controlled access database such as dbGaP. Before...