Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts

Understanding the impact of rare variants is essential to understanding human health. We analyze rare (MAF
Population-based association analyses of rare genetic variants with complex traits are limited by the availability of data from sufficiently large cohorts. Here, Cirulli et al. report gene-based collapsing analysis of exomes from 49,960 participants of the UK Biobank and 21,866 participants of the Healthy Nevada Project over a total of 4377 traits.