[口头报告]Incorporating functional annotations into PGS under omnigenic

Incorporating functional annotations into PGS under omnigenic
口头报告

报告开始:5月13日 18:00:00 (Asia/Shanghai)

报告时间:15min

所在会议:[S2] 分会场二 [S2-1] 基因组学、表观基因组学和微生物组学

摘要
The high-density genome-wide association studies (GWAS) has improved our understanding of the genetic basis of many complex traits. In this study, we consider the recent "omnigenic" or "core genes" model and incorporate functional annotations into polygenic prediction. Studies have shown that this framework can have the potential to advance our understanding of the genetic basis of complex traits. Here, we present OmniPRS, a summary statistics-based PGS method that utilizes mixed-model techniques to estimate the effect sizes and the Bayesian Model Averaging (BMA) method to integrate scores across functional categories. Our experiments with different simulation configurations and 12 real phenotypes from the UK Biobank dataset demonstrated that OmniPRS is consistently competitive with the state-of-the-art in prediction accuracy, regardless of the genetic architecture and SNP heritability of the phenotypes. Our study highlights the importance of incorporating functional annotations in predicting complex traits. We found that incorporating genetic variants with functional annotations resulted in higher accuracy of polygenic scores compared to using all genetic variants regardless of their functional annotations. This suggests that incorporating information about the biological functionality of genetic variants can improve the accuracy of predictions made by polygenic scores.
报告人
邵中鹤
博士研究生 华中科技大学

本人是一名华中科技大大学同济医学院流行病与卫生统计专业的一名在读博士研究生,本人的研究方向为统计遗传学方法,包括整合分析、遗传风险预测和因果推断。在PLoS Computational Biology,BMC Medicine,Computational and Structural Biotechnology Journal,BMC Bioinformatics,Neurobiology of Aging, Journal of Translational Medicine等期刊发表过期刊。