'COV'COP' allows to detect CNVs responsible for inherited diseases among amplicons sequencing data

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Abstract

Summary: In order to help molecular geneticists to rapidly identify CNVs responsible for inherited diseases among amplicons sequencing data generated by NGS, we designed a user-friendly tool 'Cov'Cop'. Using the run's coverage file provided by the sequencer, Cov'Cop simultaneously analyzes all the patients of the run using a two-stage algorithm containing correction and normalization levels and provides an easily understandable output, showing with various colors, potentially deleted and duplicated amplicons. Availability and Implementation: https://git.unilim.fr/merilp02/CovCop .

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Derouault, P., Parfait, B., Moulinas, R., Barrot, C. C., Sturtz, F., Merillou, S., & Lia, A. S. (2017). “COV’COP” allows to detect CNVs responsible for inherited diseases among amplicons sequencing data. Bioinformatics, 33(10), 1586–1588. https://doi.org/10.1093/bioinformatics/btx017

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