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Updated: Mar 22, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Next-generation sequencing still needs our generation's clinicians
A Reghan Foley1, Sandra Donkervoort1, Carsten G Bönnemann1
1Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD.
Abstract:
The full arrival and broader availability of next-generation sequencing (NGS) is transforming the practice of medicine, including neurology. Compared with the traditional one-gene-at-a-time Sanger sequencing, NGS, or massively parallel sequencing, is a radically different approach to genetic sequencing. NGS allows for a large number of genes to be captured and sequenced in parallel, creating an enormous amount of data in a relatively short period of time at much lower cost "per gene."
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