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Updated: Apr 30, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations
Rita Guerreiro1, José Brás2, John Hardy2
1Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, London WC1N 1PJ, UK Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA r.guerreiro@ucl.ac.uk.
Abstract:
The development of next-generation sequencing technologies has allowed for the identification of several new genes and genetic factors in human genetics. Common results from the application of these technologies have revealed unexpected presentations for mutations in known disease genes. In this review, we summarize the major contributions of exome sequencing to the study of neurodegenerative disorders and other neurological conditions and discuss the interface between Mendelian and complex neurological diseases with a particular focus on pleiotropic events.
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