title: 'COV'COP' allows to detect CNVs responsible for inherited diseases among amplicons sequencing data.
abstract: CONCLUSIONS
  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.
  
  
  METHODS
  https://git.unilim.fr/merilp02/CovCop.
  
  
  BACKGROUND
  asliabaldini@unilim.fr.
  
  
  BACKGROUND
  Supplementary data are available at Bioinformatics online.
authors.affiliation: GEIST, Université de Limoges, Limoges, France.
authors.forename: P
authors.initials: P
authors.lastname: Derouault
authors.affiliation: Génétique et Biologie Moléculaire, Hôpital Cochin, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Parfait
authors.affiliation: GENOLIM, CHU de Limoges, Limoges, France.
authors.forename: R
authors.initials: R
authors.lastname: Moulinas
authors.affiliation: Biochimie et Génétique Moléculaire, CHU de Limoges, Limoges, France.
authors.forename: C-C
authors.initials: CC
authors.lastname: Barrot
authors.affiliation: Biochimie et Génétique Moléculaire, CHU de Limoges, Limoges, France.|EA6309-GEIST, Université de Limoges, Limoges, France.
authors.forename: F
authors.initials: F
authors.lastname: Sturtz
authors.affiliation: UMR7252-XLIM, Université de Limoges, Limoges, France.
authors.forename: S
authors.initials: S
authors.lastname: Merillou
authors.affiliation: Biochimie et Génétique Moléculaire, CHU de Limoges, Limoges, France.|EA6309-GEIST, Université de Limoges, Limoges, France.
authors.forename: A-S
authors.initials: AS
authors.lastname: Lia
mesh_terms: D000465:Algorithms; D056915:DNA Copy Number Variations; D004252:DNA Mutational Analysis / Q000379:methods*; D030342:Genetic Diseases, Inborn / Q000235:genetics; D006801:Humans; D012984:Software