A penalized regression approach for DNA copy number study using the sequencing data

Jaeeun Lee, Jie Chen

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Modeling the high-throughput next generation sequencing (NGS) data, resulting from experiments with the goal of profiling tumor and control samples for the study of DNA copy number variants (CNVs), remains to be a challenge in various ways. In this application work, we provide an efficient method for detecting multiple CNVs using NGS reads ratio data. This method is based on a multiple statistical change-points model with the penalized regression approach, 1d fused LASSO, that is designed for ordered data in a one-dimensional structure. In addition, since the path algorithm traces the solution as a function of a tuning parameter, the number and locations of potential CNV region boundaries can be estimated simultaneously in an efficient way. For tuning parameter selection, we then propose a new modified Bayesian information criterion, called JMIC, and compare the proposed JMIC with three different Bayes information criteria used in the literature. Simulation results have shown the better performance of JMIC for tuning parameter selection, in comparison with the other three criterion. We applied our approach to the sequencing data of reads ratio between the breast tumor cell lines HCC1954 and its matched normal cell line BL 1954 and the results are in-line with those discovered in the literature.

Original languageEnglish (US)
Article number20180001
JournalStatistical Applications in Genetics and Molecular Biology
Issue number4
StatePublished - 2019
Externally publishedYes


  • CNVs
  • change point analysis
  • fused LASSO
  • modified information criterion
  • next generation sequencing data
  • penalized regression

ASJC Scopus subject areas

  • Statistics and Probability
  • Molecular Biology
  • Genetics
  • Computational Mathematics


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