John P. Ziniti

An exact, unifying framework for region-based association testing in family-based designs, including higher criticism approaches, SKATs, multivariate and burden tests

The paper introduces a framework for region-based association testing in family-based studies, showing improved performance over existing methods in simulations and a real dataset.

De novo mutations across 1,465 diverse genomes reveal novel mutational insights and reductions in the Amish founder population.

The paper analyzes de novo mutations in 1,465 genomes to show similar mutation rates across ancestries but reduced rates in the Amish population, with environmental factors possibly influencing mutation rates.