Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
Olivier Quenez, Kévin Cassinari, Sophie Coutant, François Lecoquierre, Kilan Le Guennec, Stéphane Rousseau, Anne‐Claire Richard, Stéphanie Vasseur, Emilie Bouvignies, Jacqueline Bou, Gwendoline Lienard, Sandrine Manase, Steeve Fourneaux, Nathalie Drouot, Virginie Nguyen-Viet, Myriam Vézain, Pascal Chambon, Géraldine Joly‐Hélas, Nathalie Le Meur, Mathieu Castelain, Anne Boland, Jean‐François Deleuze, Isabelle Tournier, Françoise Charbonnier, Edwige Kasper, Gaëlle Bougeard, Thierry Frébourg, Pascale Saugier-Véber, Stéphanie Baert‐Desurmont, Dominique Campion, Anne Rovelet‐Lecrux, Gaël Nicolas
Topics & Concepts
Copy-number variationComparative genomic hybridizationMultiplexWorkflowExomeComputational biologyExome sequencingExonComputer scienceGeneticsBiologyBioinformaticsGenomeGeneMutationDatabaseGenomic variations and chromosomal abnormalitiesCancer Genomics and DiagnosticsGenomics and Phylogenetic Studies