报告题目：Bayesian methods for estimating the degree of the skewness of X chromosome inactivation

主 讲 人：周基元

报告时间：2021年12月12日(周日) 9:30开始

报告地点：腾讯会议 ID：852-995-293

报告摘要：

X chromosome inactivation (XCI) is an epigenetic phenomenon that one of two X chromosomes in females is transcriptionally silenced during early embryonic development. Skewed XCI has been reported to be associated with some X-linked diseases. There have been several methods measuring the degree of XCI skewing. However, these methods may still have several limitations. Therefore, in this paper, we propose a Bayesian method to obtain the point estimate and the credible interval of the degree of XCI skewing by incorporating its prior information of being between 0 and 2. We consider a normal prior and a uniform prior for it (respectively denoted by BN and BU). We also propose a penalized point estimate based on the penalized Fieller's method and derive the corresponding confidence interval. Simulation results demonstrate that the BN and BU methods can solve the problems of extreme point estimates, noninformative intervals, empty sets and discontinuous intervals. The BN method generally outperforms other methods with the lowest mean squared error in the point estimation, and well controls the coverage probability with the smallest median and the least variation of the interval width in the interval estimation. We apply all the methods to the Graves' disease data and the Minnesota Center for Twin and Family Research (MCTFR) data, and found that both SNP rs3827440 in the Graves' disease data and SNP rs5951729 in the MCTFR data may undergo skewed XCI towards the allele C. In summary, we recommend the BU method for measuring the degree of XCI skewing in practice.

主讲人介绍：

周基元，现为南方医科大学公共卫生学院生物统计学系教授、博士生导师、博士后合作导师。1996年毕业于国防科技大学，获学士学位；2005年毕业于东南大学，获硕士学位；2009年毕业于香港大学，获博士学位。主要从事遗传疾病易感基因的定位、遗传印记效应的检测、大数据分析、生物统计学与卫生统计学方面的研究。作为项目负责人主持国家自然科学基金面上项目4项，广东省科技计划项目1项，南方医科大学高层次人才引进启动基金1项。发表40余篇学术论文，包括在《American Journal of Epidemiology》、《Statistical Methods in Medical Research》、《Bioinformatics》、《Genetics》、《Science of the Total Environment》、《International Journal of Hygiene and Environmental Health》等国际期刊上发表的一系列成果，累计影响因子超过100。周基元教授现担任中华预防医学会生物统计分会委员、中国卫生信息学会统计理论与方法专业委员会委员、广东省生物统计学会常务理事、“器官衰竭防治”国家重点实验室PI。

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