MCKAT: a multi-dimensional copy number variant kernel association test.

ABSTRACT: Copy number variants (CNVs) are the gain or loss of DNA segments in the genome. Studies have shown that CNVs are linked to various disorders, including autism, intellectual disability, and schizophrenia. Consequently, the interest in studying a possible association of CNVs to specific disease traits is growing. However, due to the specific multi-dimensional characteristics of the CNVs, methods for testing the association between CNVs and the disease-related traits are still underdeveloped. We propose a novel multi-dimensional CNV kernel association test (MCKAT) in this paper. We aim to find significant associations between CNVs and disease-related traits using kernel-based methods. We address the multi-dimensionality in CNV characteristics. We first design a single pair CNV kernel, which c

SUBMITTER: Maus Esfahani N 

PROVIDER: S-EPMC8666084 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature