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Chunk #8 — Materials and methods — Description of GWAS studies and genotyping

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A comprehensive survey of genetic variation in 20,691 subjects from four large cohorts.
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Since 2007, twelve separate GWAS have been conducted within these four cohorts (Table 1). The primary traits are breast cancer [16], pancreatic cancer [43], glaucoma [44], endometrial cancer [17], colon cancer [19], glioma [45], prostate cancer [18], type 2 diabetes [14], coronary heart disease [15], kidney stones, gout and mammographic density [20]. These studies were genotyped on six different arrays (Table 1) at four different genotyping centers (National Cancer Institute, Broad Institute, University of Southern California and Rosetta/Merck). Standard quality control filters for call rate, Hardy-Weinberg equilibrium, and other measures were applied to the genotyped SNPs and/or samples. In total, these GWAS data sets comprise 20,769 participants including 11,522 from NHS, 934 subjects from NHSII, 7,018 subjects from HPFS and 1,305 subjects from PHS.