Title |
Characterizing genetic interactions in human disease association studies using statistical epistasis networks
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Published in |
BMC Bioinformatics, September 2011
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DOI | 10.1186/1471-2105-12-364 |
Pubmed ID | |
Authors |
Ting Hu, Nicholas A Sinnott-Armstrong, Jeff W Kiralis, Angeline S Andrew, Margaret R Karagas, Jason H Moore |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 4 | 25% |
France | 1 | 6% |
Germany | 1 | 6% |
Argentina | 1 | 6% |
Unknown | 9 | 56% |
Demographic breakdown
Type | Count | As % |
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Scientists | 9 | 56% |
Members of the public | 7 | 44% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Germany | 4 | 3% |
United States | 4 | 3% |
United Kingdom | 3 | 2% |
Switzerland | 2 | 2% |
Norway | 1 | <1% |
Ireland | 1 | <1% |
France | 1 | <1% |
Italy | 1 | <1% |
Portugal | 1 | <1% |
Other | 2 | 2% |
Unknown | 108 | 84% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 45 | 35% |
Researcher | 29 | 23% |
Student > Master | 13 | 10% |
Professor > Associate Professor | 12 | 9% |
Professor | 5 | 4% |
Other | 13 | 10% |
Unknown | 11 | 9% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 53 | 41% |
Computer Science | 24 | 19% |
Biochemistry, Genetics and Molecular Biology | 13 | 10% |
Medicine and Dentistry | 10 | 8% |
Mathematics | 7 | 5% |
Other | 7 | 5% |
Unknown | 14 | 11% |