Ontology highlight
ABSTRACT:
SUBMITTER: Kenna KP
PROVIDER: S-EPMC5560030 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Nature genetics 20160725 9
To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261His variant as a c ...[more]