Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation

Olivier Quenez (1) , Kevin Cassinari (1) , Sophie Coutant (1) , Francois Lecoquierre (1) , Kilan Le Guennec (1) , Stéphane Rousseau (1) , Anne-Claire Richard (1) , Stéphanie Vasseur (1) , Emilie Bouvignies (1) , Jacqueline Bou (1) , Gwendoline Lienard (1) , Sandrine Manase (1) , Steeve Fourneaux (1) , Nathalie Drouot (1) , Virginie Nguyen-Viet (1) , Myriam Vezain (1) , Pascal Chambon (1) , Géraldine Joly Helas (1) , Nathalie Le Meur (1) , Mathieu Castelain (1) , Anne Boland (2) , Jean-François Deleuze (2) , Isabelle Tournier (1) , Francoise Charbonnier (1) , Edwige Kasper (1) , Gaëlle Bougeard (1) , Thierry Frebourg (1) , Pascale Saugier-Veber (1) , Stephanie Baert-Desurmont (1) , Dominique Campion (1, 3) , Anne Rovelet-Lecrux (1) , Gaël Nicolas (1)

1 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
2 Centre National en Génomique Humaine, Institut de Génomique, CEA, Evry, France
3 Department of Research, Centre hospitalier du Rouvray, Sotteville-lès-Rouen, France

Keywords: Exome; Sensitivity; Bioinformatics; CNVs detection; CANOES; Read-depth information; Panel

Domains: Quantitative Methods [q-bio.QM]; Human genetics; Genomics [q-bio.GN]

Olivier Quenez, Kevin Cassinari, Sophie Coutant, Francois Lecoquierre, Kilan Le Guennec, et al.. Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation. 2019. ⟨hal-02317979v1⟩