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Investigators
Our expectations of collaborators
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...
Regulatory Review
Resources
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
Announcing CellProfiler 3.1.9
Beth Cimini Hello all! It’s been a crazy last few months for the CellProfiler team, as we’ve been hiring some new members to the team and working hard on the transition to Python 3, which will bump us into CellProfiler version 4. Keep your eyes peeled for exciting content in the future! We did want...
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...