Statistical challenges associated with detecting copy number variations with next-generation sequencing

@article{Mei2012StatisticalCA,
  title={Statistical challenges associated with detecting copy number variations with next-generation sequencing},
  author={Teo Shu Mei and Yudi Pawitan and Ku Chee Seng and Kee Seng Chia and Agus Salim},
  journal={Bioinformatics},
  year={2012},
  volume={28 21},
  pages={2711-8}
}
MOTIVATION Analysing next-generation sequencing (NGS) data for copy number variations (CNVs) detection is a relatively new and challenging field, with no accepted standard protocols or quality control measures so far. There are by now several algorithms developed for each of the four broad methods for CNV detection using NGS, namely the depth of coverage (DOC), read-pair, split-read and assembly-based methods. However, because of the complexity of the genome and the short read lengths from NGS… CONTINUE READING
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