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Chunk #17 — Introduction — Detection of copy number variants

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Detection of structural DNA variation from next generation sequencing data: a review of informatic approaches.
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a similar strategy, first denoising the coverage ratio using a discrete wavelet transform, and then identifying copy gains and losses via a hidden Markov model (43). A third, similar, approach is taken by ExomeCNV, which segments the exome into regions of equal copy number using CBS, based on the tumor/normal ratio (44). However, ExomeCNV also models the B-allele frequencies to detect LOH, which can be used to corroborate CNV calls, deletions in particular.