统计学系系列讲座之269-270期

统计学系系列讲座之270

 

时间:2017 年 7月14日(星期五)16:00-17:00

地点:复旦大学管理学院思源教授楼726室

主持人:朱仲义 教授 复旦大学管理学院统计学系

主题:Quantile Based eQTL Discovery

主讲人:Ying Wei, Ph.D 

Department of Biostatistics, Mailman School of Public Health, Columbia University 

个人简介:Dr. Ying Wei's research interests are in the general area of quantile regression, longitudinal data, and semi-parametric models, with a focus on developing methodologies of longitudinal growth chart construction. This screening process can provide an individual's current growth status by taking into account one's personal profiles. Dr. Wei's methodologies provide flexibility by avoiding underlying distribution assumption and accommodate unequally-spaced measurement time spacings. She also has investigated effective methods to make inferences, diagnose model goodness-of-fit, and assess uncertainty of screening based on the estimated models.

摘要:Over the past decade, there has been a remarkable improvement in our understanding of the role of genetic variation in complex human diseases, especially via genome-wide association studies(GWAS). However, the underlying molecular mechanisms are still poorly characterized, impending the development of therapeutic interventions. Identifying genetic variants that influence the expression level of a gene, i.e. expression quantitative trait loci (eQTLs), can help us understand how genetic variants influence traits at the molecular level. That is crucial to understand the GWAS results. While most eQTL studies focus on identifying mean effects on gene expression using linear regression, evidence suggests that genetic variation can impact the entire distribution of the expression level. Motivated by identifying the potential higher order associations, we propose to use quantile rank-score test combining over multiple quantile levels to identify eQTLs that are associated with the conditional quantile functions of gene expression. The proposed test has well controlled type I errors, and is computationally simple. We have applied this approach to the Genotype-Tissue Expression project, an international tissue bank for studying the relationship between genetic variation and gene expression in human tissues, and discovered a set of new eQTLs with heterogeneous effects across different quantile levels. We found that those heterogeneous eQTLs identified by quantile regression are associated with greater enrichment in genome-wide significant SNPs from the GWAS catalog, and are also more likely to be tissue specific than eQTLs identified by linear regression. The results suggest that quantile regression has great potential for new discoveries in genetics. 

 

统计学系

2017-7-10