Oviedo University, Gijón.
IEEE/ACM Trans Comput Biol Bioinform. 2012 Jan-Feb;9(1):88-97. doi: 10.1109/TCBB.2011.44. Epub 2011 Mar 3.
Genome-wide association studies (GWA) try to identify the genetic polymorphisms associated with variation in phenotypes. However, the most significant genetic variants may have a small predictive power to forecast the future development of common diseases. We study the prediction of the risk of developing a disease given genome-wide genotypic data using classifiers with a reject option, which only make a prediction when they are sufficiently certain, but in doubtful situations may reject making a classification. To test the reliability of our proposal, we used the Wellcome Trust Case Control Consortium (WTCCC) data set, comprising 14,000 cases of seven common human diseases and 3,000 shared controls.
全基因组关联研究（GWA）试图确定与表型变异相关的遗传多态性。然而，最显著的遗传变异可能对预测常见疾病的未来发展具有较小的预测能力。我们使用具有拒绝选项的分类器研究了在全基因组基因型数据的情况下对疾病风险的预测，当它们有足够的把握时才进行预测，但在不确定的情况下可能会拒绝进行分类。为了测试我们建议的可靠性，我们使用了惠康信托基金病例对照联盟（WTCCC）数据集，其中包括 7 种常见人类疾病的 14000 个病例和 3000 个共享对照。
