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Status已发表Published
TitleDetection Copy Number Variants from NGS with Sparse and Smooth Constraints
Creator
Date Issued2017-07-01
Source PublicationIEEE/ACM Transactions on Computational Biology and Bioinformatics
ISSN1545-5963
Volume14Issue: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.

KeywordCopy number variants read depth sparsity total variation
DOI10.1109/TCBB.2016.2561933
URLView source
Indexed BySCIE
Language英语English
WOS Research AreaBiochemistry & Molecular Biology ; Computer Science ; Mathematics
WOS SubjectBiochemical Research Methods ; Computer Science, Interdisciplinary Applications ; Mathematics, Interdisciplinary Applications ; Statistics & Probability
WOS IDWOS:000407464700010
Scopus ID2-s2.0-85029495632
Citation statistics
Cited Times:7[WOS]   [WOS Record]     [Related Records in WOS]
Document TypeJournal article
Identifierhttp://repository.uic.edu.cn/handle/39GCC9TT/6353
CollectionFaculty 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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