Robust Interpretation of Genomic Data in Chronic Obstructive Pulmonary Disease (COPD)

摘要

Within genomic studies, a considerable amount of publications have reported SNP variants associated with COPD with little to no reproducibility. In this paper, we present a robust methodology which analyses a COPD cohort dataset using a genome-wide association study, additionally an investigation of the associated results using a variety of machine learning (ML) methods is performed. We use a logistic regression model to provide preliminary results and for further analysis we use machine learning models, RF, MLP, GLM and SVM. Within this study, indications of well established SNPs in previous publications occur in the preliminary results but fail to provide further indication of associative relationship when using ML methods for classification purposes. Results within this study show little to no predictive power after performing a robust methodology. These results indicate that a standardization of practice should be implemented to ensure the publication of false positive results is reduced and deterred. Further investigation of associative features should be considered a standard practice given the resulting information that can be provided with its' use.