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Open Accesshttps://doi.org/10.1136/jmg-2023-109263
Copy DOI Journal: Journal of Medical Genetics |  Publication Date: Jul 26, 2023 |
 License type: cc-by-nc |
Affiliation: Inserm, Centre Hospitalier Universitaire de Nantes, French National Centre for Scientific Research, Institut du Thorax, Nantes Université, Medical Genetics & Functional Genomics, Centre Hospitalier Universitaire d'Angers, University of Angers, Institute of Genetics and Development of Rennes, University of Rennes, Centre Hospitalier Universitaire de Poitiers, University of Poitiers, Université de Tours, Centre Hospitalier Universitaire de Tours, National Center of Human Genomics Research, University of Paris-Saclay, Institut Polytechnique de Paris, Atomic Energy and Alternative Energies Commission, CEA SaclayBackgroundMolecular diagnosis of neurodevelopmental disorders (NDDs) is mainly based on exome sequencing (ES), with a diagnostic yield of 31% for isolated and 53% for syndromic NDD. As sequencing costs decrease,...
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