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You will be provided a login for our secure online analysis portal, seqr. Each individual sequenced will have a phenotype record within seqr, and for each affected individual, it is required to be filled in by the collaborator before sequencing data can be loaded onto seqr. We use the Human...

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...

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...