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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...

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...

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...