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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.

Original publication

DOI

10.1016/j.neurobiolaging.2014.12.017

Type

Journal article

Journal

Neurobiol Aging

Publication Date

03/2015

Volume

36

Pages

1600.e5 - 1600.e8

Keywords

ALS, Amyotrophic lateral sclerosis, Diagnosis, Genetic, MiSeq, NGS, Neurogenetics, Next-generation sequencing, Sequencing, Amyotrophic Lateral Sclerosis, Cohort Studies, High-Throughput Nucleotide Sequencing, Humans, Polymorphism, Genetic, Reproducibility of Results