A regression model for estimating DNA copy number applied to capture sequencing data

@article{Rigaill2012ARM,
  title={A regression model for estimating DNA copy number applied to capture sequencing data},
  author={Guillem Rigaill and Sidney Cadot and Roelof J. C. Kluin and Zheng Xue and Ren{\'e} Bernards and Ian J. Majewski and Lodewyk F. A. Wessels},
  journal={Bioinformatics},
  year={2012},
  volume={28 18},
  pages={2357-65}
}
MOTIVATION Target enrichment, also referred to as DNA capture, provides an effective way to focus sequencing efforts on a genomic region of interest. Capture data are typically used to detect single-nucleotide variants. It can also be used to detect copy number alterations, which is particularly useful in the context of cancer, where such changes occur frequently. In copy number analysis, it is a common practice to determine log-ratios between test and control samples, but this approach results… CONTINUE READING
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