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) and interpretation of both coding and noncoding variation, compared against a database of >100,000 reference exomes and genomes. We provide a report for each family outlining the analyses performed and highlighting variants we consider to be likely causal. Our analysts work closely with collaborators in exploring the data and providing candidate and likely causal variants, and works in tandem with your team to discuss challenging cases.
Please review each section of the workflow to familiarize yourself with our process.