Rare-variant association testing for sequencing data with the sequence kernel association test.

By Michael C. Wu, Seunggeun Lee, Tianxi Cai, Yun Li, M. Boehnke, Xihong Lin. American Journal of Human Genetics, 2011

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A polygenic burden of rare disruptive mutations in schizophrenia (2014, unknown): “We performed two series of gene-based tests: a one-sided burden test of an increased rare allele rate in cases, and the SKAT (Wu et al., 2011), which allows for risk and protective effects.”
RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data (2016, methodology): “…in the gene region have similar effect sizes (Li and Leal, 2008), to sequence-kernel association tests that can handle scenarios where variants in the same gene region affect the phenotype in opposite directions (Wu et al., 2011), e.g. when both hypermorphic and hypomorphic alleles are present.”