Detection of Copy-Number Variations from NGS Data Using Read Depth Information: a Diagnostic Performance Evaluation
Olivier Quenez,Kevin Cassinari,Sophie Coutant,Francois Lecoquierre,Kilan Le Guennec,Stephane Rousseau,Anne-Claire Richard,Stephanie Vasseur,Emilie Bouvignies,Jacqueline Bou,Gwendoline Lienard,Sandrine Manase,Steeve Fourneaux,Nathalie Drouot, Virginie Nguyen-Viet,Myriam Vezain,Pascal Chambon,Geraldine Joly-Helas,Nathalie Le Meur,Mathieu Castelain,Anne Boland,Jean-Francois Deleuze,Isabelle Tournier,Francoise Charbonnier,Edwige Kasper,Gaelle Bougeard,Thierry Frebourg,Pascale Saugier-Veber,Stephanie Baert-Desurmont,Dominique Campion,Anne Rovelet-Lecrux,Gael Nicolas EUROPEAN JOURNAL OF HUMAN GENETICS（2021）
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