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A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study.

Giuseppe LanzaFrancesco CalìMirella VinciFilomena Irene Ilaria CosentinoMariangela TripodiRosario Sebastiano SpadaMariagiovanna CantoneRita BellaTeresa MattinaRaffaele Ferri
Published in: Neural plasticity (2020)
Notwithstanding the preliminary value of this study, some rare genetic variants with a probable disease association were detected. Although future application of NGS-based sensors and further replication of these experimental data are needed, this approach seems to offer promising translational perspectives in the diagnosis and management of a wide range of neurodegenerative disorders.
Keyphrases
  • electronic health record
  • copy number
  • current status
  • big data
  • machine learning
  • low cost