Centre for Population Genomics

Rare Gene Effect Modulators (rare GEMS)

(PI: Professor Daniel MacArthur, Centre for Population Genomics)

Despite decades of progress in human biology, three-quarters of human genes have no known associated phenotype, and at least a third of them are of completely unknown function. With the development of very large collections of humans with genome-scale DNA sequence, we now have an unprecedented opportunity to identify individuals with naturally occurring genomic alterations in virtually all genes in which inactivation is compatible with survival to adulthood. This project led by the CPG aims to establish a global consortium that will use data from large genomic studies with the goal of identifying individuals with rare genomic alterations that cause a loss of function in the majority of human genes.