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High-throughput sequencing of DNA coding regions has become a common way of assaying genomic variation in the study of human diseases. Copy number variation (CNV) is an important type of genomic variation, but detecting and characterizing CNV from exome sequencing is challenging due to the high level of biases and artifacts.
(Jiang et al., 2015) CODEX: a normalization and copy number variation detection method for whole exome sequencing. Nucleic Acids Res.