NEW YORK – By analyzing DNA sequencing data combined with electronic health record information, researchers have uncovered rare variants that implicate about two dozen genes in conditions like glaucoma and diabetes.
Rare variants may have a greater effect on disease risk, but can be, due to their infrequency, more difficult to study. Using electronic health records and DNA sequencing data collected on nearly 11,000 individuals, researchers from the University of Pennsylvania conducted an exome-by-phenome-wide analysis to uncover gene-phenotype associations.