Publication | Open Access

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Developmental AnomalyRare DiseasesMendelian DisorderGenetic DisorderMedicineGeneticsClinical Whole-exome SequencingPathologyDisease Gene IdentificationGenomicsProspective Annual ReanalysisMolecular DiagnosticsSequencing