Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study

Abstract Background Intellectual disability (ID) is the leading cause of patient referral to medical genetic departments in French academic hospitals. Whole genome sequencing (WGS) as a first diagnostic approach is expected to achieve a higher diagnostic yield than the French national reference stra...

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Principais autores:	Salima El Chehadeh, Solveig Heide, Chloé Quélin, Marlène Rio, Henri Margot, David Geneviève, Bertrand Isidor, Alice Goldenberg, Caroline Guégan, Gaëtan Lesca, Marjolaine Willems, Clothilde Ormières, Roseline Caumes, Tiffany Busa, Dominique Bonneau, Anne-Marie Guerrot, Isabelle Marey, Gabriella Vera, Pauline Marzin, Anaïs Philippe, Aurore Garde, Christine Coubes, Marie Vincent, Vincent Michaud, Cyril Mignot, Perrine Charles, Sabine Sigaudy, Patrick Edery, Didier Lacombe, Anne Boland, Frédérique Nowak, Marion Bouctot, Marie-Laure Humbert-Asensio, Alban Simon, Kirsley Chennen, Niki Sabour, Christelle Delmas, Gaël Nicolas, Pascale Saugier-Veber, François Lecoquierre, Kévin Cassinari, Boris Keren, Thomas Courtin, Jean-Madeleine De Sainte Agathe, Valérie Malan, Giulia Barcia, Frédéric Tran Mau-Them, Hana Safraou, Christophe Philippe, Julien Thévenon, Nicolas Chatron, Louis Januel, Amélie Piton, Virginie Haushalter, Bénédicte Gérard, Catherine Lejeune, Laurence Faivre, Damien Sanlaville, Delphine Héron, Sylvie Odent, Patrick Nitschké, Caroline Schluth-Bolard, Stanislas Lyonnet, Jean-François Deleuze, Christine Binquet, Hélène Dollfus, DEFIDIAG study group
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	BMC 2025-10-01
סדרה:	Genome Medicine
נושאים:	Whole genome sequencing (WGS) Short-read sequencing Trio Solo Intellectual disability Diagnostic yields
גישה מקוונת:	https://doi.org/10.1186/s13073-025-01527-4
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!