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From Genome to Phenotype: Genomic Variation Identification, Association, and Function in Human Health and Disease

NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.

… p.m. Current State of the Art in Variant Discovery and Association Amit Khera Laura Bierut Jonathan Haines 12:10 - … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of … is needed to overcome barriers to performing functional studies at scale? 10:15 - 10:30 a.m Breakout Session Charge …

News Release

Differences in our DNA have major influences on how our genomes function, but how?

Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.

… Consortium are exploring how genomic variation affects genome function. … While most DNA letters are the same … disease — but which ones? How genomic variations affect genome function and in turn influence human traits is … and muscular disorders. The results generated by these studies will be validated by other IGVF researchers using …