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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...