Copy number variation detection via normalizing high-throughput sequencing data at a nucleotide level
报告人:席瑞斌
报告地点:数学楼403室
报告时间:2012年11月02日15:00-16:10
邀请人:
报告摘要:
Copy number variation (CNV) is a major class of variations in the human genome, which has been associated with a wide spectrum of human diseases such as cancer, schizophrenia and autoimmune diseases. In recent years, the advancement of high-throughput sequencing (HTS) technologies has provided an opportunity for CNV detection with unprecedented resolution. Based on HTS data, a number of CNV detection algorithms have been developed. Since HTS data contains various types of biases, these algorithms usually have a bias correction step. However, these bias correction methods are often large bin-based and the resolution of these algorithms is heavily restricted by the bin size. Here, we developed an algorithm that can normalize HTS data at a nucleotide level as well as a CNV detection algorithm based on the normalized HTS data that can detect CNVs with base-pair level resolution. Simulation and real data analysis shows that this algorithm can effectively remove the biases and accurately call CNVs.
主讲人简介:
Dr. Ruibin Xi is currently a professor at School of Mathematical Sciences and Center for Statistical Science, Peking University. Dr. Xi obtained his Ph.D. degree at the Department of Mathematics, Washington University in St. Louis in 2009. He then worked at Center for Biomedical Informatics, Harvard Medical School as a Research Associate from 2009 to 2012. His research interests include variable selection methods, Bayesian Statistics, bioinformatics, cancer genomics and massive data set analysis. Dr. Xi has authored and co-authored in publications published in top journals such as PNAS, Nature Genetics, Nature Biotechnology and Nature.