Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls
Yi-Juan Hu, Peizhou Liao, Henry Richard Johnston, Andrew Allen, Glen Satten
The paper introduces a likelihood-based method to test rare variant associations without genotype calling, showing robustness to sequencing differences and identifying novel variants in childhood obesity.
PLOS Genetics · May 6, 2016Peer-reviewedBioinformatics