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/CovCopContact:asliabaldini@unilim.frSupplementary information:Supplementary data are available at Bioinformatics online.

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