TY - JOUR AU - Hu, Ting AU - Sinnott-Armstrong, Nicholas A. AU - Kiralis, Jeff W. AU - Andrew, Angeline S. AU - Karagas, Margaret R. AU - Moore, Jason H. PY - 2011 DA - 2011/09/12 TI - Characterizing genetic interactions in human disease association studies using statistical epistasis networks JO - BMC Bioinformatics SP - 364 VL - 12 IS - 1 AB - Epistasis is recognized ubiquitous in the genetic architecture of complex traits such as disease susceptibility. Experimental studies in model organisms have revealed extensive evidence of biological interactions among genes. Meanwhile, statistical and computational studies in human populations have suggested non-additive effects of genetic variation on complex traits. Although these studies form a baseline for understanding the genetic architecture of complex traits, to date they have only considered interactions among a small number of genetic variants. Our goal here is to use network science to determine the extent to which non-additive interactions exist beyond small subsets of genetic variants. We infer statistical epistasis networks to characterize the global space of pairwise interactions among approximately 1500 Single Nucleotide Polymorphisms (SNPs) spanning nearly 500 cancer susceptibility genes in a large population-based study of bladder cancer. SN - 1471-2105 UR - https://doi.org/10.1186/1471-2105-12-364 DO - 10.1186/1471-2105-12-364 ID - Hu2011 ER -