Structural Variants May Be a Source of Missing Heritability in sALS

Abstract excerpt

The underlying genetic and molecular mechanisms that drive amyotrophic lateral sclerosis remain poorly understood. Structural variants within the genome can play a significant role in neurodegenerative disease risk, such as the repeat expansion in C9ORF72 and the tri-nucleotide repeat in ATXN2, both of which are associated with familial and sporadic amyotrophic lateral sclerosis. Many such structural variants...

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