Proceeding talk – Theme: Genes.
Abstract
Motivation: Recently, many methods have been developed for conducting rare-variant association studies for sequencing data. These methods have primarily been based on gene-level associa-tions but have not been proven to be as effective as expected. Gene-set-level tests have shown great advantages over gene-level tests in terms of power and robustness, because complex diseases are often caused by multiple genes that comprise of biological gene sets.
Results: Here, we propose several novel gene-set tests that em-ploy rapid and efficient dimensionality reduction. The performance of these tests was investigated using extensive simulations and application to 1,058 whole-exome sequences from a Korean popu-lation. We identified some known pathways and novel pathways whose rare or common variants are associated with elevated liver enzymes and replicated the results in an independent cohort.
Authors
Jaehoon Lee, Seoul National University, Republic of Korea
Young Jin Kim, Center for Genome Science, KNIH Korea, Republic of Korea
Juyoung Lee, Korean National Institute of Heatlh, Republic of Korea
Bong-Jo Kim, Korea National Institute of Health, Republic of Korea
Seungyeoun Lee, Sejong University, Republic of Korea
Taesung Park, Seoul National University, Republic of Korea