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Systematic evaluation of genetic mutations in ALS: a population-based study

27 Jul 2022

Abstract excerpt

BACKGROUND: A genetic diagnosis in Amyotrophic Lateral Sclerosis (ALS) can inform genetic counselling, prognosis and, in the light of incoming gene-targeted therapy, management. However, conventional genetic testing strategies are often costly and time-consuming. OBJECTIVE: To evaluate the diagnostic yield and advantages of whole-genome sequencing (WGS) as a standard diagnostic genetic test for ALS. METHODS: In...

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PMID: 35896380
DOI: 10.1136/jnnp-2022-328931

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