Gene set analysis and reduction for a continuous phenotype: Identifying markers of birth weight variation based on embryonic stem cells and immunologic signatures

摘要

Background: Gene set analysis is a popular approach to examine the association between a predefined gene set and a phenotype. Few methods have been developed for a continuous phenotype. However, often not all the genes within a significant gene set contribute to its significance. There is no gene set reduction method developed for continuous phenotype. We developed a computationally efficient analytical tool, called linear combination test for gene set reduction (LCT-GSR) to identify core subsets of gene sets associated with a continuous phenotype. Identifying the core subset enhances our understanding of the biological mechanism and reduces costs of disease risk assessment, diagnosis and treatment.