BOOST: A fast approach to detecting gene-gene interactions in genome-wide case-control studies

Gene-gene interactions have long been recognized to be fundamentally important to understand genetic causes of complex disease traits. At present, identifying gene-gene interactions from genome-wide case-control studies is computationally and methodologically challenging. In this paper, we introduce a simple but powerful method, named `BOolean Operation based Screening and Testing'(BOOST). To discover unknown gene-gene interactions that underlie complex diseases, BOOST allows examining all pairwise interactions in genome-wide case-control studies in a remarkably fast manner. We have carried out interaction analyses on seven data sets from the Wellcome Trust Case Control Consortium (WTCCC). Each analysis took less than 60 hours on a standard 3.0 GHz desktop with 4G memory running Windows XP system. The interaction patterns identified from the type 1 diabetes data set display significant difference from those identified from the rheumatoid arthritis data set, while both data sets share a very similar hit region in the WTCCC report. BOOST has also identified many undiscovered interactions between genes in the major histocompatibility complex (MHC) region in the type 1 diabetes data set. In the coming era of large-scale interaction mapping in genome-wide case-control studies, our method can serve as a computationally and statistically useful tool.Comment: Submitte

Enhancing Super-Resolution Networks through Realistic Thick-Slice CT Simulation

This study aims to develop and evaluate an innovative simulation algorithm for generating thick-slice CT images that closely resemble actual images in the AAPM-Mayo's 2016 Low Dose CT Grand Challenge dataset. The proposed method was evaluated using Peak Signal-to-Noise Ratio (PSNR) and Root Mean Square Error (RMSE) metrics, with the hypothesis that our simulation would produce images more congruent with their real counterparts. Our proposed method demonstrated substantial enhancements in terms of both PSNR and RMSE over other simulation methods. The highest PSNR values were obtained with the proposed method, yielding 49.7369 $\pm$ 2.5223 and 48.5801 $\pm$ 7.3271 for D45 and B30 reconstruction kernels, respectively. The proposed method also registered the lowest RMSE with values of 0.0068 $\pm$ 0.0020 and 0.0108 $\pm$ 0.0099 for D45 and B30, respectively, indicating a distribution more closely aligned with the authentic thick-slice image. Further validation of the proposed simulation algorithm was conducted using the TCIA LDCT-and-Projection-data dataset. The generated images were then leveraged to train four distinct super-resolution (SR) models, which were subsequently evaluated using the real thick-slice images from the 2016 Low Dose CT Grand Challenge dataset. When trained with data produced by our novel algorithm, all four SR models exhibited enhanced performance.Comment: 11 pages, 4 figure