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Advantages of routine next generation sequencing over standard genetic testing in the ALS clinic.

Jakub ScaberAlexander Guy ThompsonLucy FarrimondEmily FenebergMalcolm ProudfootLynn OssherMartin R TurnerKevin Talbot
Published in: European journal of neurology (2023)
This study provides evidence that expanding genetic testing to all patients with a clinical diagnosis of ALS enhances the potential for recruitment to clinical trials, but will have direct resource implications for genetic counselling.
Keyphrases
  • clinical trial
  • copy number
  • amyotrophic lateral sclerosis
  • primary care
  • smoking cessation
  • gene expression
  • risk assessment
  • phase iii