Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
利用读取深度信息从NGS数据中检测拷贝数变异:诊断性能评估
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-020-0672-2
Quenez, Olivier; Cassinari, Kevin; Coutant, Sophie; Lecoquierre, François; Le Guennec, Kilan; Rousseau, Stéphane; Richard, Anne-Claire; Vasseur, Stéphanie; Bouvignies, Emilie; Bou, Jacqueline; Lienard, Gwendoline; Manase, Sandrine; Fourneaux, Steeve; Drouot, Nathalie; Nguyen-Viet, Virginie; Vezain, Myriam; Chambon, Pascal; Joly-Helas, Géraldine; Le Meur, Nathalie; Castelain, Mathieu; Boland, Anne; Deleuze, Jean-François; Tournier, Isabelle; Charbonnier, Françoise; Kasper, Edwige; Bougeard, Gaëlle; Frebourg, Thierry; Saugier-Veber, Pascale; Baert-Desurmont, Stéphanie; Campion, Dominique; Rovelet-Lecrux, Anne; Nicolas, Gaël