Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data

  title={Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data},
  author={Ruen Yao and Cheng Zhang and Tingting Yu and Niu Li and Xuyun Hu and Xiumin Wang and Jian Wang and Yiping Shen},
  journal={Molecular Cytogenetics},
BackgroundWhole exome sequencing (WES) has been widely accepted as a robust and cost-effective approach for clinical genetic testing of small sequence variants. Detection of copy number variants (CNV) within WES data have become possible through the development of various algorithms and software programs that utilize read-depth as the main information. The aim of this study was to evaluate three commonly used, WES read-depth based CNV detection programs using high-resolution chromosomal… 

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