Detection of Copy Number Variation Regions Using the DNA-Sequencing Data from Multiple Profiles with Correlated Structure

Jie Chen, Shirong Deng

Research output: Contribution to journalArticle


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.

Original languageEnglish (US)
Pages (from-to)1128-1140
Number of pages13
JournalJournal of Computational Biology
Issue number10
StatePublished - Oct 2018



  • CNVs
  • DNA-sequencing
  • Lasso latent feature model
  • fused Lasso
  • modified Bayesian information criterion.

ASJC Scopus subject areas

  • Modeling and Simulation
  • Molecular Biology
  • Genetics
  • Computational Mathematics
  • Computational Theory and Mathematics

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