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Chunk #3 — 1 Introduction

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RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data.
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RVTESTS can perform linear/logistic regression analyses for unrelated samples, as well as efficient linear mixed model analyses of (cryptically) related individuals (with either empirical or pedigree kinships; Lippert et al., 2011). To permit the more accurate assessment of P-values for analyzing rare variant association with discrete traits, it also implements the Firth corrected logistic regression analyses for single variant and burden tests (Firth, 1993; Ma et al., 2013). RVTESTS does not implement methods for fine mapping causal variants. Yet, fine mapping studies can be nicely complemented by tools such as pVAAST (Hu et al., 2014). Summary association statistics generated by RVTESTS can be used by tools such as fGWAS (Pickrell, 2014) to prioritize causal variants.