A copula-based set-variant association test for bivariate continuous, binary or mixed phenotypes.

ABSTRACT: In genome wide association studies (GWAS), researchers are often dealing with dichotomous and non-normally distributed traits, or a mixture of discrete-continuous traits. However, most of the current region-based methods rely on multivariate linear mixed models (mvLMMs) and assume a multivariate normal distribution for the phenotypes of interest. Hence, these methods are not applicable to disease or non-normally distributed traits. Therefore, there is a need to develop unified and flexible methods to study association between a set of (possibly rare) genetic variants and non-normal multivariate phenotypes. Copulas are multivariate distribution functions with uniform margins on the [0, 1] interval and they provide suitable models to deal with non-normality of errors in multivariate associat

SUBMITTER: St-Pierre J 

PROVIDER: S-EPMC10644254 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature