Article

UK-Biobank Whole Exome Sequence Binary Phenome Analysis with Robust Region-based Rare Variant Test

2019-07-11

Abstract excerpt

In biobank data analysis, most binary phenotypes have unbalanced case-control ratios, which can cause inflation of type I error rates. Recently, a saddlepoint approximation (SPA) based single variant test has been developed to provide an accurate and scalable method to test for associations of such phenotypes. For gene- or region-based multiple variant tests, a few methods exist which adjust for unbalanced case-co...

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Literature Corpus work: 8db015be-c826-5fb4-9163-d267884379c1
DOI: 10.1101/697912

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