The NGS technology for the identification of genes associated with the ALS. A systematic review.

Valentina Pecoraro Jessica MandrioliChiara CaroneAdriano Chio Bryan J Traynor Tommaso Trenti

Published in: European journal of clinical investigation (2020)

NGS seems to be a promising tool for the diagnosis of ALS in routine clinical practice. Its advantages are represented by an increased speed and a lowest sequencing cost, but patients' counselling could be problematic due to the discovery of frequent variants of unknown significance.

Keyphrases

clinical practice
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
small molecule
amyotrophic lateral sclerosis
prognostic factors
peritoneal dialysis
single cell
high throughput
copy number
patient reported outcomes
human immunodeficiency virus
smoking cessation