An evaluation of copy number variation detection tools from whole-exome sequencing data.

@article{Tan2014AnEO,
  title={An evaluation of copy number variation detection tools from whole-exome sequencing data.},
  author={Renjie Tan and Yadong Wang and Sarah E Kleinstein and Yongzhuang Liu and Xiaolin Zhu and Hongzhe Guo and Qinghua Jiang and Andrew S. Allen and Mingfu Zhu},
  journal={Human mutation},
  year={2014},
  volume={35 7},
  pages={
          899-907
        }
}
Copy number variation (CNV) has been found to play an important role in human disease. Next-generation sequencing technology, including whole-genome sequencing (WGS) and whole-exome sequencing (WES), has become a primary strategy for studying the genetic basis of human disease. Several CNV calling tools have recently been developed on the basis of WES data. However, the comparative performance of these tools using real data remains unclear. An objective evaluation study of these tools in… CONTINUE READING

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