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 variants) and interpretation of both coding and noncoding variation, compared against a database of >100,000 reference exomes and genomes. We will provide a report for each family outlining the analyses performed and highlighting variants we consider to be likely causal.
All raw data generated by the Center will be available to the collaborators who provided the corresponding samples. In addition, we will provide an intuitive online portal giving collaborators the ability to analyze their own data, alongside the Broad's reference database, thus facilitating collaborative gene discovery. Our analysts will work closely with collaborators in exploring the data and providing candidate and likely causal variants, and will work in tandem with your team to discuss challenging cases.
The Center will provide centralized services for DNA extraction (if required) and storage, sequencing, alignment and variant calling, interpretation and raw data storage. We will also support the generation of manuscripts reporting novel genes by providing publication-quality text and figures, by connecting collaborators with sources of additional cases with mutations in the same gene, and by creating a network of investigators capable of functional validation of newly discovered genes.