Article
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study.
Neural plasticity - 1 Jan 2020
Lanza Giuseppe, Calì Francesco, Vinci Mirella, Cosentino Filomena Irene Ilaria, Tripodi Mariangela, Spada Rosario Sebastiano, Cantone Mariagiovanna, Bella Rita, Mattina Teresa, Ferri Raffaele
Abstract excerpt
Purpose: The advancements in the next-generation sequencing (NGS) techniques have allowed for rapid, efficient, and cost-time-effective genetic variant detection. However, in both clinical practice and research setting, sequencing is still often limited to the use of gene panels clinically targeted on the genes underlying the disease of interest. Methods: We performed a neurogenetic study through an ad hoc...
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