Ontology highlight
ABSTRACT:
SUBMITTER: van Rheenen W
PROVIDER: S-EPMC5556360 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Nature genetics 20160725 9
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated ...[more]