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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...

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...