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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...

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...

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...

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...

Support Rare Disease Research Today Rare diseases are not rare. While each individual condition may affect a small number of people, together they impact more than 300 million people worldwide. In the United States alone, an estimated 30 million Americans live with a rare disease. The Broad Center...