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Publication Detail
Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis
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Publication Type:Journal article
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Publication Sub Type:Journal Article
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Authors:Morgan S, Shoai M, Fratta P, Sidle K, Orrell R, Sweeney MG, Shatunov A, Sproviero W, Jones A, Al-Chalabi A, Malaspina A, Houlden H, Hardy J, Pittman A
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Publication date:01/03/2015
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Pagination:1600.e5, 1600.e8
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Journal:Neurobiology of Aging
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Volume:36
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Issue:3
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Status:Published
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Print ISSN:0197-4580
Abstract
© 2015 Elsevier Inc. The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening panel to sequence 25 ALS-linked genes and examined samples from 95 patients with both familial and sporadic ALS. Forty-three rare polymorphisms were detected in this cohort. A third of these have already been reported with respect to ALS, leaving 28 novel variants all open for further investigation. This study highlights the potential benefits of next-generation sequencing as a reliable, cost and time efficient, diagnostic, and research tool for ALS.
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