Baylor College of Medicine - Mendelian Genomics Research Center (BCM-MGRC)

About This Grant

The Baylor College of Medicine node of the NHGRI GREGoR program (BCM-GREGoR) has built on the extensive discoveries and infrastructure established in previous programs. The research program is nested within the Department of Molecular and Human Genetics at BCM and engages the Human Genome Sequencing Center along with other BCM-research activities. Collaborators at the University of Texas and Columbia University Medical Center also participate. Overall, BCM-GREGoR has enrolled a cohort of ~18,000 individuals and families with challenging-to-diagnose rare disease conditions (those unsolved by routine clinical studies such as exome sequencing). Individual cases have been ‘solved’ through the integration of novel methods of genomic data analysis, data sharing across networks, new genomic sequencing technologies, and methods for molecular and organismal phenotypic interrogation of prioritized candidate disease genes and variants. Data have been shared with the GREGoR network via the GREGoR Data Coordinating Center (DCC) and AnVIL, including genomic and phenotypic data, case metadata, and BCM-GREGoR developed genomic tools. This supplement request to support the Baylor College of Medicine GREGoR program will enable completion of the original stated GREGoR goals, including a limited amount of data gathering for participant samples that remain unprocessed and consolidation of all data accrued during the course of the program to support analysis and final conclusions.