Unmasking better strategies for rare-variant association studies

The strategies scientists use to “mask,” or group, rare coding variants for association to traits are inconsistent, according to new work led by Trang Nguyen, Jason Flannick, and others. The researchers examined more than 600 masks used across 234 studies, finding that masking strategies were rarely justified or repeated, leading to inconsistent and/or missed discoveries. After testing the measures on biobank data, they developed two baseline strategies that improve the detection of gene-trait associations and can also be used to benchmark new masks in future studies. Read more in Nature Genetics for the results and Springer Nature Research Communities for the journey "Behind the Paper.”