TRASER: linking genomic intervals to phenotypes using trait-associated GWAS SNPs

讲座题目：TRASER: linking genomic intervals to phenotypes using trait-associated GWAS SNPs

主 讲 人：Zhaohui Qin （秦朝辉）

讲座时间：2016年1月3日9:00-10:00

讲座地点：钱伟长楼201

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理学院

2016年12月8日

讲座内容简介：The majority of variants identified by Genome-wide association studies (GWASs) fall outside of the protein-coding regions. Understanding the cryptic link between non-coding sequence variants and pathophysiology of complex diseases is a fundamental challenge. To overcome the lack of annotation in the intergenic regions, various recent computational tools have been developed to identify non-coding risk variants using genome-wide genomics and epigenomics profiling data. A common feature of these methods is that they do not distinguish risk variants associated with different diseases. Since different biological mechanisms are believed to contribute to the etiology of different diseases, it is desirable to characterize the impact of a non-coding variant in a disease-specific manner. In this work, we describe DIVAN, a data-driven, machine learning approach that aims to identify disease-specific risk variants. Using 1,806 epigenomic profiles across cell types and factors, along with other static genomic features, we adopt a novel feature selection based ensemble-learning framework to achieve this goal. Our results suggest that DIVAN has the potential to annotate novel variants in a disease-specific manner which will be important to help us understand disease etiology.

主讲人简介：Zhaohui Qin，现任Emory University生物统计与信息系副教授，博士。1994年毕业于北京大学概率与统计系，获理学学士学位；1997和2000年毕业于美国University of Michigan统计学方向系，分别获硕士学位和博士学位。主要研究领域：统计方法与应用，应用贝叶斯推理，数据分析中概率统计方法与公共健康、生物统计与基金风险分析等。主持基金项目18项，发表学术论文90多篇，国际会议报告20多次。也是许多国际知名刊物的编委。已培养大量优秀硕士及博士研究生。