| Literature DB >> 25588603 |
Sarah Morgan1, Maryam Shoai1, Pietro Fratta2, Katie Sidle3, Richard Orrell3, Mary G Sweeney4, Aleksey Shatunov5, William Sproviero5, Ashley Jones5, Ammar Al-Chalabi5, Andrea Malaspina6, Henry Houlden7, John Hardy1, Alan Pittman8.
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.Entities:
Keywords: ALS; Amyotrophic lateral sclerosis; Diagnosis; Genetic; MiSeq; NGS; Neurogenetics; Next-generation sequencing; Sequencing
Mesh：
Year: 2014 PMID： 25588603 DOI： 10.1016/j.neurobiolaging.2014.12.017
Source DB: PubMed Journal: Neurobiol Aging ISSN： 0197-4580 Impact factor: 4.673