Article
Rare-variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2024
Ross Jay P, Akçimen Fulya, Liao Calwing, Kwan Karina, Phillips Daniel E, Schmilovich Zoe, Spiegelman Dan, Genge Angela, Dupré Nicolas, Dion Patrick A, Farhan Sali M K, Rouleau Guy A
Abstract excerpt
PURPOSE: The genetic etiology of amyotrophic lateral sclerosis (ALS) includes few rare, large-effect variants and potentially many common, small-effect variants per case. The genetic risk liability for ALS might require a threshold comprised of a certain amount of variants. Here, we tested the degree to which risk for ALS was affected by rare variants in ALS genes, polygenic risk score, or both. METHODS: 335 ALS...
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