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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 a controlled access database such as dbGaP. Before...

Workflow Turnaround The Broad CMG provides exome and/or whole­ genome sequencing at no cost to the collaborator for affected cases and relatives. This centralized service offers high­ quality sequencing and analysis, incorporating discovery of all classes of variation (including copy number variants...

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...