Title
Detection of Copy Number Variation Regions Using the DNA-Sequencing Data from Multiple Profiles with Correlated Structure.
Abstract
In this article, we investigate the problem of detecting boundaries of DNA copy number variation (CNV) regions using the DNA-sequencing data from multiple subject samples. Genomic features along the linear realization of the actual genome are correlated, especially within vicinity of a locus, so are the sequencing reads along the genome. It is then crucial to take the correlated structure of such high-throughput genomic data into consideration when modeling DNA-sequencing data for CNV detection from statistical and computational viewpoints. We use the framework of a fused Lasso latent feature model to solve the problem, and propose a modified information criterion for selecting the tuning parameter when search for common CNVs is shared by multiple subjects. Simulation studies and application on multiple subjects' next-generation sequencing data, downloaded from the 1000 Genome Project, showed that the proposed approach can effectively identify individual CNVs of a single subject profile and common CNVs shared by multiple subjects.
Year
DOI
Venue
2018
10.1089/cmb.2018.0053
JOURNAL OF COMPUTATIONAL BIOLOGY
Keywords
Field
DocType
CNVs,DNA-sequencing,fused Lasso,Lasso latent feature model,modified Bayesian information criterion
DNA Copy Number Variation,Copy-number variation,Artificial intelligence,DNA sequencing,Computational biology,Machine learning,Mathematics
Journal
Volume
Issue
ISSN
25.0
10
1066-5277
Citations 
PageRank 
References 
0
0.34
1
Authors
2
Name
Order
Citations
PageRank
Jie Chen19138.15
Shirong Deng200.68