The problem: Existing multiplexed assays of variant effects (MAVEs) typically do not account for genetic, environmental, or tissue/developmental context. This limits the utility of MAVEs for understanding how variants interact with genetic background, affect non cell-autonomous phenotypes, alter organismal phenotype, or are impacted by environmental factors. As a result, existing MAVEs yield variant effect data that are useful for clinical variant interpretation in genes where variants have simple, cell autonomous phenotypes independent of genetic and environmental context.

Our solution: The Center for the Multiplexed Assessment of Phenotype (CMAP) aims to overcome these limitations by developing technologies for mapping variant effects at scale across a wide range of environmental conditions, genetic contexts, and in multicellular model systems. We also develop tools that leverage multiplex functional data to improve the prediction of disease risk.

By developing and disseminating new technologies, the Center is advancing the promise of the Human Genome Project by interpreting the landscape of human genetic variation.

We are a Center of Excellence in Genome Sciences, supported by the National Human Genome Research Institute.