The outcome of the Study was that information obtained from genetic analysis, especially from an integrated NGS analysis such as WES and WGS, is valuable for the diagnosis and individualized management of patients with neurogenetic diseases. Precision medicine and the implementation of targeted gene therapies are expected to become a reality soon.
Summary according to publication:
• The appropriate choice of genetic test is essential for the analysis of neurological disorders that follow Mendelian inheritance and can lead to the accurate diagnosis of the disease.
• Next-generation sequencing technology provides the optimal solution for the analysis of phenotypically and genetically heterogeneous neurological disorders.
• Appropriate bioinformatics infrastructure is essential for gene selection, interpretation and classification of variants resulting from NGS analyses.
• Sub-analysis of variants with submitted interpretations in the Clinical Variation (ClinVar) database in neurology-related genes performed by the GENEKOR bioinformatics group indicates that VUSs when re-classified are ultimately downgraded to non-pathogenic findings in 81% .
• Genetic counseling and multidisciplinary collaboration could further improve diagnostic yield.
• Genetic analysis is useful not only for accurate diagnosis but also for individualized management of neurological patients. In addition, it constitutes the basis for new gene therapies.
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Authors: Eirini Papadopoulou Nikolaos Grigoriadis Elisabeth Chroni, Georgia Pepe a , Spiridon Konitsiotis , Vasilios K. Kimiskidis, Maria Chondrogiorgi , Georgios Tsivgoulis, Dimos D. Mitsikostas , Eleni Domouzoglou, Georgios Tsaousis, Georgios Nasioulas