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Disease area of focus
Retinal Inherited retinal degenerations (IRDs) are characterized by progressive dysfunction and death of rod and cone photoreceptor cells, leading to vision loss, and are one of the most genetically diverse groups of inherited disorders. Identifying the genetic cause of patients’ IRD has become...
Criteria for sample inclusion and prioritization
Data Sharing
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 controlled access databases. Matchmaker Exchange The...
Sequencing
Accepted samples are sequenced at the Broad’s Genomics Platform. After sequencing and processing completes, our project management team will send a notification and reminder to enter in phenotype information. This will be a required step before data can be loaded onto our seqr platform. Once data is...
Benefits to collaborators
The Center will provide exome and/or whole genome sequencing at no cost to the collaborator for affected cases and relatives. This centralized service will offer high quality sequencing and analysis at the Broad Institute, incorporating discovery of all classes of variation (including copy number...
Data Access
All sequencing data produced by the Broad Institute will be made available to collaborators on request. The CMG will make the following data accessible: Array data Acess to array data (if generated for your samples) will be granted via Aspera. Sample BAMs VCF file containing all samples in cohort...