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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 Data Round one of analysis entails identifying candidate variants in known genes associated...

Broad CMG publications To view all Broad CMG publications in PubMed, please click here. Publication Policy In general, it is anticipated that collaborators will retain first and senior authorship for straightforward discoveries made on their samples (either discovered by the core Broad CMG staff or...

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...

Sequencing data produced by the Broad CMG will be made available to collaborators upon request with the required contingency that phenotype information is entered on seqr. Please note we are only able to return data to the investigator that initiated this collaboration, as well as relevant study...

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...