Titre:
  • CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.
Auteur:Montagne, Louise; Derhourhi, Mehdi; Piton, Amélie; Toussaint, Bénédicte; Durand, Emmanuelle; Vaillant, Emmanuel; Thuillier, Dorothée; Gaget, Stefan; De Graeve, Franck; Rabearivelo, Iandry; Lansiaux, Amélie; Lenne, Bruno; Sukno, Sylvie; Desailloud, Rachel; Cnop, Miriam; Nicolescu, Ramona; Cohen, Lior; Zagury, Jean-François; Amouyal, Mélanie; Weill, Jacques; Muller, Jean; Sand, Olivier; Delobel, Bruno; Froguel, Philippe; Bonnefond, Amélie
Informations sur la publication:Molecular metabolism, 13, page (1-9)
Statut de publication:Publié, 2018-07
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Augmented whole-exome sequencing
Copy number variation
Intellectual disability
Molecular diagnosis
Next-generation sequencing
Obesity
Langue:Anglais
Identificateurs:urn:issn:2212-8778
info:doi/10.1016/j.molmet.2018.05.005
info:pii/S2212-8778(18)30427-7
info:pmid/29784605
PMC6026315