科学研究
报告题目:

Joint modeling of eQTLs and parent-of-orign effects using an orthogonal framework with RNA-seq data

报告人:

邓世容 副教授(武大数学与统计学院)

报告时间:

报告地点:

理学院东北楼四楼报告厅(404)

报告摘要:

Extensive studies have been conducted on the analysis of genome function, especially on expression quantitative trait loci (eQTL). These studies offered promising results for characterization of the functional sequencing variation and understanding of the basic processes of gene regulation. Parent of origin effect (POE) as an important epigenetic phenomenon describing that the expression of certain genes depends on their allelic parent-of-origin and it is known to play important roles in human complex diseases.However,traditional eQTL mapping approaches do not allow for the detection of imprinting, or they focus on modeling the additive genetic effect thereby ignoring the estimation of the dominant genetic effect. In this study,we proposed a statistical framework to test the additive and dominant genetic effects of the candidate eQTLs along with detection of POE with a functional model and an orthogonal model for RNA-seq data. We demonstrated the desirable power and preserved Type I errors of the methods in most scenarios, especially the orthogonal model with un-biased estimation of the genetic effects and over-dispersion of the RNA-seq data. The application to a HapMap project trio dataset validated existing imprinted genes and discovered two novel imprinted genes with potential dominance genetic effect. This study provides new insights into the next generation statistical modeling of eQTL mapping for better understanding the genetic architecture underlying the mechanisms of gene expression regulation.