The vision of the BCM-GREGoR research program is to translate genomic discovery and functional phenotyping to precision molecular diagnosis in the clinic whilst advancing genomics and human genetics research. We seek to advance understanding of gene function through definition of all Mendelian disease traits and cataloging of the phenotypic impact of variant alleles across all ~20,000 protein coding genes. Clinicians and diagnostic laboratories will be invaluable partners as we strive to drive this new knowledge to the “front lines” of healthcare.
Short name
BCM-GREGoR
PI(s)
Richard Gibbs (BCM-GREGoR, Baylor College of Medicine) James (Jim) Lupski (BCM-GREGoR, Baylor College of Medicine)
Contact PI(s)
Jennifer Posey (BCM-GREGoR, Baylor College of Medicine)
Award