Status | 已发表Published |
Title | Detection Copy Number Variants from NGS with Sparse and Smooth Constraints |
Creator | |
Date Issued | 2017-07-01 |
Source Publication | IEEE/ACM Transactions on Computational Biology and Bioinformatics
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ISSN | 1545-5963 |
Volume | 14Issue:4Pages:856-867 |
Abstract | It is known that copy number variations (CNVs) are associated with complex diseases and particular tumor types, thus reliable identification of CNVs is of great potential value. Recent advances in next generation sequencing (NGS) data analysis have helped manifest the richness of CNV information. However, the performances of these methods are not consistent. Reliably finding CNVs in NGS data in an efficient way remains a challenging topic, worthy of further investigation. Accordingly, we tackle the problem by formulating CNVs identification into a quadratic optimization problem involving two constraints. By imposing the constraints of sparsity and smoothness, the reconstructed read depth signal from NGS is anticipated to fit the CNVs patterns more accurately. An efficient numerical solution tailored from alternating direction minimization (ADM) framework is elaborated. We demonstrate the advantages of the proposed method, namely ADM-CNV, by comparing it with six popular CNV detection methods using synthetic, simulated, and empirical sequencing data. It is shown that the proposed approach can successfully reconstruct CNV patterns from raw data, and achieve superior or comparable performance in detection of the CNVs compared to the existing counterparts. |
Keyword | Copy number variants read depth sparsity total variation |
DOI | 10.1109/TCBB.2016.2561933 |
URL | View source |
Indexed By | SCIE |
Language | 英语English |
WOS Research Area | Biochemistry & Molecular Biology ; Computer Science ; Mathematics |
WOS Subject | Biochemical Research Methods ; Computer Science, Interdisciplinary Applications ; Mathematics, Interdisciplinary Applications ; Statistics & Probability |
WOS ID | WOS:000407464700010 |
Scopus ID | 2-s2.0-85029495632 |
Citation statistics | |
Document Type | Journal article |
Identifier | http://repository.uic.edu.cn/handle/39GCC9TT/6353 |
Collection | Faculty of Science and Technology |
Affiliation | 1.Electrical and Information College,Jinan University,Zhuhai,China 2.Department of Computer Science,Hong Kong Baptist University,Hong Kong,China 3.School of Computer Science and Technology,South China University of Technology,Guangzhou,China 4.HKBU United International College,Zhuhai Key Laboratory of Agricultural Product Quality,Zhuhai,China |
Recommended Citation GB/T 7714 | Zhang, Yue,Cheung, Yiu-ming,Xu, Boet al. Detection Copy Number Variants from NGS with Sparse and Smooth Constraints[J]. IEEE/ACM Transactions on Computational Biology and Bioinformatics, 2017, 14(4): 856-867. |
APA | Zhang, Yue, Cheung, Yiu-ming, Xu, Bo, & Su, Weifeng. (2017). Detection Copy Number Variants from NGS with Sparse and Smooth Constraints. IEEE/ACM Transactions on Computational Biology and Bioinformatics, 14(4), 856-867. |
MLA | Zhang, Yue,et al."Detection Copy Number Variants from NGS with Sparse and Smooth Constraints". IEEE/ACM Transactions on Computational Biology and Bioinformatics 14.4(2017): 856-867. |
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