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Phenotype Submission

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...

Data Transfer

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...

Our expectations of collaborators

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...