P Derouault1, B Parfait2, R Moulinas3, C-C Barrot4, F Sturtz4,5, S Merillou6, A-S Lia4,5. 1. GEIST, Université de Limoges, Limoges, France. 2. Génétique et Biologie Moléculaire, Hôpital Cochin, Paris, France. 3. GENOLIM, CHU de Limoges, Limoges, France. 4. Biochimie et Génétique Moléculaire, CHU de Limoges, Limoges, France. 5. EA6309-GEIST, Université de Limoges, Limoges, France. 6. UMR7252-XLIM, Université de Limoges, Limoges, France.
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. CONTACT: asliabaldini@unilim.fr. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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. CONTACT: asliabaldini@unilim.fr. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.