Reduced penetrance of gene variants causing amyotrophic lateral sclerosis.

Published in: Journal of medical genetics (2023)

Population-level penetrance of amyotrophic lateral sclerosis disease genes is reduced. This finding has implications for the genetic testing and counselling of affected individuals and their unaffected relatives.

Keyphrases

amyotrophic lateral sclerosis
copy number
genome wide
genome wide identification
dna methylation
gene expression
bioinformatics analysis