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Data Sharing

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. Matchmaker Exchange The...

Analysis

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...

Sequencing

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...

Benefits to collaborators

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...

Data Access

All sequencing data produced by the Broad Institute will be made available to collaborators on request. The CMG will make the following data accessible: Array data Acess to array data (if generated for your samples) will be granted via Aspera. Sample BAMs VCF file containing all samples in cohort...

Publications

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...