Article
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
American journal of human genetics - 6 Nov 2014
Lim Elaine T, Liu Yangfan P, Chan Yingleong, Tiinamaija Tuomi, Käräjämäki AnnMari, Madsen Erik, Altshuler David M, Raychaudhuri Soumya, Groop Leif, Flannick Jason, Hirschhorn Joel N, Katsanis Nicholas, Daly Mark J
Abstract excerpt
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...
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