CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability

• Main Authors: Louise Montagne (Author), Mehdi Derhourhi (Author), Amélie Piton (Author), Bénédicte Toussaint (Author), Emmanuelle Durand (Author), Emmanuel Vaillant (Author), Dorothée Thuillier (Author), Stefan Gaget (Author), Franck De Graeve (Author), Iandry Rabearivelo (Author), Amélie Lansiaux (Author), Bruno Lenne (Author), Sylvie Sukno (Author), Rachel Desailloud (Author), Miriam Cnop (Author), Ramona Nicolescu (Author), Lior Cohen (Author), Jean-François Zagury (Author), Mélanie Amouyal (Author), Jacques Weill (Author), Jean Muller (Author), Olivier Sand (Author), Bruno Delobel (Author), Philippe Froguel (Author), Amélie Bonnefond (Author)
• Format: Book
• Published: Elsevier, 2018-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: The molecular diagnosis of extreme forms of obesity, in which accurate detection of both copy number variations (CNVs) and point mutations, is crucial for an optimal care of the patients and genetic counseling for their families. Whole-exome sequencing (WES) has benefited considerably thi...