Abstract
Detection of copy number variants from targeted sequencing, including whole-exome sequencing, can be particularly difficult since the break points of the CNV are not always captured. Here we describe DECoN, a software tool which uses changes in read depth to identify CNVs that affect whole exons. It is optimized for clinical use and allows for interactive visualization of CNVs identified.
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© 2022 The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature
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Fowler, A. (2022). DECoN: A Detection and Visualization Tool for Exonic Copy Number Variants. In: Ng, C., Piscuoglio, S. (eds) Variant Calling. Methods in Molecular Biology, vol 2493. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2293-3_6
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DOI: https://doi.org/10.1007/978-1-0716-2293-3_6
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Publisher Name: Humana, New York, NY
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Online ISBN: 978-1-0716-2293-3
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