Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6804738 | Neurobiology of Aging | 2015 | 4 Pages |
Abstract
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.
Keywords
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Biochemistry, Genetics and Molecular Biology
Ageing
Authors
Sarah Morgan, Maryam Shoai, Pietro Fratta, Katie Sidle, Richard Orrell, Mary G. Sweeney, Aleksey Shatunov, William Sproviero, Ashley Jones, Ammar Al-Chalabi, Andrea Malaspina, Henry Houlden, John Hardy, Alan Pittman,