Ontology highlight
ABSTRACT:
SUBMITTER: Lim ET
PROVIDER: S-EPMC4225638 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Lim Elaine T ET Liu Yangfan P YP Chan Yingleong Y Tiinamaija Tuomi T Käräjämäki AnnMari A Madsen Erik E Altshuler David M DM Raychaudhuri Soumya S Groop Leif L Flannick Jason J Hirschhorn Joel N JN Katsanis Nicholas N Daly Mark J MJ
American journal of human genetics 20141016 5
Rare-variant association studies in common, complex diseases are customarily conducted under an additive risk model in both single-variant and burden testing. Here, we describe a method to improve detection of rare recessive variants in complex diseases termed RAFT (recessive-allele-frequency-based test). We found that RAFT outperforms existing approaches when the variant influences disease risk in a recessive manner on simulated data. We then applied our method to 1,791 Finnish individuals with ...[more]