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Detection of Copy Number Variations from NGS Data Using Read Depth Information: a Diagnostic Performance Evaluation

Olivier Quenez,Kevin 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 Vezain,Pascal Chambon,Géraldine Joly-Helas,Nathalie Le Meur,Mathieu Castelain,Anne Boland,Jean-François Deleuze,Emmanuelle Génin,Isabelle Tournier,Françoise Charbonnier,Edwige Kasper,Gaëlle Bougeard,Thierry Frebourg,Pascale Saugier-Veber,Stéphanie Baert-Desurmont,Dominique Campion,Anne Rovelet-Lecrux,Gaël Nicolas

European Journal of Human Genetics（2020）

Cited 21|Views49
Key words
Data processing,DNA sequencing,Genetics research,Biomedicine,general,Human Genetics,Bioinformatics,Gene Expression,Cytogenetics
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