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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...

You will be provided a login for our secure online analysis portal, seqr. Each individual sequenced will have a phenotype record within seqr, and for each affected individual, it is required to be filled in by the collaborator before sequencing data can be loaded onto seqr. We use the Human...

Sequencing data produced by the Broad CMG will be made available to collaborators upon request with the required contingency that phenotype information is entered on seqr. Please note we are only able to return data to the investigator that initiated this collaboration, as well as relevant study...