CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.
- 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
DOIAbstract
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 this molecular diagnosis, but its poor ability to detect CNVs remains a major limitation. We aimed to develop a method (CoDE-seq) enabling the accurate detection of both CNVs and point mutations in one step.SCOPUS: ar.jinfo:eu-repo/semantics/publishe
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