A permutation method for detecting trend correlations in rare variant association studies.

ABSTRACT: In recent years, there has been an increasing interest in detecting disease-related rare variants in sequencing studies. Numerous studies have shown that common variants can only explain a small proportion of the phenotypic variance for complex diseases. More and more evidence suggests that some of this missing heritability can be explained by rare variants. Considering the importance of rare variants, researchers have proposed a considerable number of methods for identifying the rare variants associated with complex diseases. Extensive research has been carried out on testing the association between rare variants and dichotomous, continuous or ordinal traits. So far, however, there has been little discussion about the case in which both genotypes and phenotypes are ordinal variables. This

SUBMITTER: Liu L 

PROVIDER: S-EPMC7044977 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature