Why CGAP?
As a co-developer of CGAP, BGM has applied its expertise to inform the design of CGAP and specifically support workflows to efficiently identify genetic etiologies of rare disease, including the application to both novel gene-disease association discoveries in the most complex, unsolved cases as well as indication-based diagnostic analysis, interpretation, and reporting.
As a co-developer of CGAP, BGM is using CGAP to identify novel gene-disease associations in patients and families with unsolved rare genetic diseases.
About the Project
In 2012, the BWH Division of Genetics initiated Brigham Genomic Medicine (BGM), an integrated clinical and research program, to enable BWH faculty from multiple BWH departments and divisions to discover new monogenic disease genes in their patients by WES/WGS. BGM has evolved to include a broadly distributed but integrated team of clinicians who ascertain and select appropriate cases, a state-of-the-art genomic sequence analysis pipeline, and an interdisciplinary gene discovery process that involves clinicians, bioinformaticians, and experimentalists working together to identify new genetic variants that cause human disease. BGM has received support both internally from BWH and externally from multiple NIH grants.
To date, BGM has analyzed over 250 families with suspected monogenic disease and identified and published multiple novel disease-gene identifications. In recent years, its primary activity has been to reanalyze genomic sequencing data from unsolved rare disease cases for the Harvard Clinical site of the Undiagnosed Disease Network.
