Disease Liability Prediction from Large Scale Genotyping Data Using Classifiers with a Reject Option

作者：Quevedo Jose R^*; Bahamonde Antonio; Perez Enciso Miguel; Luaces Oscar

来源：IEEE/ACM Transactions on Computational Biology and Bioinformatics, 2012, 9(1): 88-97.

DOI：10.1109/TCBB.2011.44

• Genome-wide analysis
• classification with a reject option
• risk of common human diseases

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.

• 出版日期2012-2