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 sequencing can be conducted we will require phenotype and pedigree information from samples to be entered into a custom PhenoTips interface. Prioritization of samples for CMG sequencing will take place after phenotype data has been made available.
While the Center will provide lists of candidate causal variants and genes, we are not funded for targeted functional validation, experimental assays, or clinical followup of candidate genes. As such, collaborators will be responsible for detailed clinical and experimental followup of candidate variants and genes.
The Center's results will be generated in a research environment, not a clinical diagnostic laboratory. As such, collaborators will generally be responsible for their own clinical validation of results in an appropriately regulated setting (e.g. a CLIA laboratory) before using them in clinical practice. We request that collaborators update the CMG on the validation status and clinical outcomes of variants discovered by the Center.