Impact of Genomic Variation on Function



The IGVF (Impact of Genomic Variation on Function) Consortium aims to understand how genomic variation affects genome function, which in turn impacts phenotype. IGVF advances functional genomics by generating and sharing large-scale data and resources that enable researchers to understand how genetic variation influences genome function, phenotype, and human disease. The NHGRI, an institute within the NIH, funds this collaborative program and brings together teams of investigators who use state-of-the-art experimental and computational approaches to model, predict, characterize, and map genome function to study: how genome function shapes phenotype, and how these processes are affected by genomic variation. Through these joint efforts, IGVF is cataloging the impact of genomic variants on genome function and phenotypes.

Program Goals

Systematic perturbation of the genome to assess the impact of genomic variation on genome function and phenotype

High-resolution identification of where and when genes and regulatory elements function

Advancement of network-level understanding of the influence of genetic variation and genome function on phenotype

Development and testing of innovative predictive models of the impact of genomic variation on genome function

Generation of a resource centered on a catalog of variant impacts and including data, tools, and models that will be shared with the broader research community

Enabling others to perform related studies using these approaches