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Zoom link:¡¡https://snu-ac-kr.zoom.us/j/88441994899


Title:¡¡New statistical selection method for pleiotropic variants associated with both quantitative and qualitative traits


ABSTRACT :

Identification of pleiotropic variants associated with multiple phenotypic traits has received increasing attention in genetic association studies. Genetic overlap between multiple traits can raise the chance of detecting weak genetic associations missed by single-trait analyses. There are relatively many statistical methods to identify pleiotropic variants but most of them are limited to quantitative traits, even though pleiotropic effects on both quantitative and qualitative traits are often observed. This is a statistically challenging problem because there does not exist an appropriate multivariate distribution to model both quantitative and qualitative data together. Alternatively, meta-analysis methods can be applied. They basically integrate summary statistics of individual variants associated with either a quantitative or qualitative trait. However, meta-analysis methods cannot account for correlations among genetic variants. We propose new statistical selection method based on a selection score to prioritize pleiotropic variants associated with both quantitative and qualitative traits. For each trait, regression coefficients of elastic-net regularization are first estimated and then the number of nonzero estimates is additively combined to compute unified selection score of individual variants. In our extensive simulation studies, where various types of pleiotropic effects on both quantitative and qualitative traits were considered, we demonstrated that the proposed method outperforms the existing meta-analysis methods in terms of true positive selection. We also applied the proposed method to peanut data with 6 quantitative and 2 qualitative traits, and cowpea data with 2 quantitative and 6 qualitative traits. We were able to detect some potentially pleiotropic variants missed by the existing methods in both analyses.