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Once sequencing data is available on seqr, Broad CMG analysts will work together with collaborators using the seqr framework to identify strong candidate genes and variants. Exome and Whole Genome Sequencing DataRound one of analysis entails identifying candidate variants in known genes associated...

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...

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. See our timelines and...

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...