期刊 基于聚类的多样本复发拷贝数变异检测算法  

A Recurrent Copy Number Variation Detection Algorithm From Multi-sample Based on Clustering

作  者:陈念华 袁细国[1] 

CHEN Nianhua;YUAN Xiguo

机构地区:[1]西安电子科技大学计算机科学与技术学院,陕西西安710071

出  处:《聊城大学学报:自然科学版》2021年第6期20-28,共9页Journal of Liaocheng University:Natural Science Edition

A Recurrent Copy Number Variation Detection Algorithm From Multi-sample Based on Clustering

基  金:国家自然科学基金面上项目(61571341);山东省社会科学规划数字山东研究专项(20CSDJ09)资助。

摘  要:拷贝数变异是人类基因组中一种重要的结构变异类型。不同样本中相同区域出现的拷贝数变异称作复发拷贝数变异。研究表明,复发拷贝数变异与人类复杂疾病紧密关联。提出一种基于聚类思想的多样本复发拷贝数变异的检测算法,该算法首先提取两种与复发拷贝数变异密切相关的特征:即多样本中每个位点的拷贝数变异比率和拷贝数变异幅度均值,然后利用聚类算法在这两种特征上进行聚类,根据聚类结果找出发生复发拷贝数变异的位点。通过两种模拟数据来评估该算法的性能,同时与三种同行方法进行比较,结果表明该算法具有较好的检测性能;本文还将该算法应用至两种真实数据,检测结果中包含一定数量的疾病相关基因,这表明本文所提算法的有效性。

Copy number variation is an important type of structural variation in the human genome.The copy number variation that occurs in the same region in different samples is called recurrent copy number variation.This paper proposes a cluster-based algorithm to detect recurrent copy number variation from multiple samples.The algorithm first extracts two features that are closely related to recurrent copy number variation:Copy number variation ratio of each probe in multiple samples and the copy number variation amplitude of each probe,then use clustering algorithm to cluster these two features,and find out the probes of recurrent copy number variation based on the clustering results.This paper evaluates the performance of the algorithm through two kinds of simulation data,and compares with three peer methods at the same time.The results show that the algorithm has better detection performance.This paper also applies the algorithm to two kinds of real data,and the detection results contain a number of disease-related genes,which shows the effectiveness of the algorithm proposed in this article.

关 键 词:复发拷贝数变异 聚类算法 多样本 疾病相关基因 

recurrent copy number variation clustering algorithm multiple sample disease-related genes 

分 类 号:N39[自然科学总论] TP311[自动化与计算机技术—计算机软件与理论]

 

参考文献:

正在载入数据...

 

二级参考文献:

正在载入数据...

 

耦合文献:

正在载入数据...

 

引证文献:

正在载入数据...

 

二级引证文献:

正在载入数据...

 

同被引文献:

正在载入数据...

 

相关期刊文献:

正在载入数据...

相关文献:

正在载入数据...

北京电子科技职业学院特色库 版权所有 ©2018