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

Title:	Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
Authors:	Quenez, Olivier^Aff1; Cassinari, Kevin^Aff1; Coutant, Sophie^Aff2; Lecoquierre, François^Aff2; Le Guennec, Kilan^Aff1; Rousseau, Stéphane^Aff1; Richard, Anne-Claire^Aff1; Vasseur, Stéphanie^Aff2; Bouvignies, Emilie^Aff2; Bou, Jacqueline^Aff2; Lienard, Gwendoline^Aff2; Manase, Sandrine^Aff2; Fourneaux, Steeve^Aff2; Drouot, Nathalie^Aff2; Nguyen-Viet, Virginie^Aff2; Vezain, Myriam^Aff2; Chambon, Pascal^Aff2; Joly-Helas, Géraldine^Aff2; Le Meur, Nathalie^Aff2; Castelain, Mathieu^Aff2; Boland, Anne^Aff3; Deleuze, Jean-François^Aff3; Tournier, Isabelle^Aff2; Charbonnier, Françoise^Aff2; Kasper, Edwige^Aff2; Bougeard, Gaëlle^Aff2; Frebourg, Thierry^Aff2; Saugier-Veber, Pascale^Aff2; Baert-Desurmont, Stéphanie^Aff2; Campion, Dominique^{Aff1, Aff4}; Rovelet-Lecrux, Anne^Aff1; Nicolas, Gaël^{Aff1, IDs4143102006722_cor33}; Génin, Emmanuelle^Aff5; Dartigues, Jean-François^Aff6; Lambert, Jean-Charles^Aff7; Redon, Richard^Aff8; Ludwig, Thomas^Aff5; Grenier-Boley, Benjamin^Aff7; Letort, Sébastien; Lindenbaum, Pierre^Aff5; Meyer, Vincent^Aff3; Quenez, Olivier^Aff1; Dina, Christian^Aff8; Bellenguez, Céline^Aff7; Charbonnier, Camille^Aff1; Giemza, Joanna^Aff8; Chatel, Stéphanie^Aff7; Férec, Claude^Aff5; Le Marec, Hervé^Aff7; Letenneur, Luc^Aff6; Nicolas, Gaël^Aff1; Rouault, Karen^Aff5; Bacq, Delphine^Aff3; Boland, Anne^Aff3; Lechner, Doris^Aff3
Source:	European Journal of Human Genetics. 29(1):99-109
Database:	Springer Nature Journals