What GWAS will be
Two studies help find which GWAS hits actually matter
Genome-wide association studies (GWAS) identify thousands of genetic variants that are linked to disease, without distinguishing the alleles that cause the phenotype from variants that are co-inherited but not causal. Two groups from the Broad Institute of MIT and Harvard have shown a high throughput assay can help pinpoint the variants that actually impact gene expression, which could uncover targets and mechanisms for a wide range of diseases.
"We've come beyond the era of just doing GWAS. The last 10 years have provided us with great examples and a framework for doing those studies. Now the challenge is, we've gotten all this information, but how do we really learn biology from it?" said Vijay Sankaran, principal investigator on one of the studies, who is an assistant professor of pediatrics at Harvard Medical School and an associate member at the Broad Institute. ...