2018/04/09 by Casimiro Adays Curbelo Montañez, Paul Fergus, Montañez, Casimiro Adays Curbelo +5
Biochemistry, Genetics and Molecular Biology · #Computational Engineering #Computers and Society (cs.CY) #FOS: Biological sciences #FOS: Computer and information sciences #Finance #Genetic Associations and Epidemiology #Genetic and phenotypic traits in livestock #Genomics (q-bio.GN) #Machine Learning (cs.LG) #Nutrition, Genetics, and Disease #and Science (cs.CE)
paper · pdf · doi:10.48550/arxiv.1804.03198
openalex publication_date 2018/04/09 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28
In this paper, association results from genome-wide association studies (GWAS) are combined with a deep learning framework to test the predictive capacity of statistically significant single nucleotide polymorphism (SNPs) associated with obesity phenotype. Our approach demonstrates the potential of deep learning as a powerful framework for GWAS analysis that can capture information about SNPs and the important interactions between them. Basic statistical methods and techniques for the analysis of genetic SNP data from population-based genome-wide studies have been considered. Statistical association testing between individual SNPs and obesity was conducted under an additive model using logistic regression. Four subsets of loci after quality-control (QC) and association analysis were selected: P-values lower than 1x10-5 (5 SNPs), 1x10-4 (32 SNPs), 1x10-3 (248 SNPs) and 1x10-2 (2465 SNPs). A deep learning classifier is initialised using these sets of SNPs and fine-tuned to classify obese and non-obese observations. Using a deep learning classifier model and genetic variants with P-value < 1x10-2 (2465 SNPs) it was possible to obtain results (SE=0.9604, SP=0.9712, Gini=0.9817, LogLoss=0.1150, AUC=0.9908 and MSE=0.0300). As the P-value increased, an evident deterioration in performance was observed. Results demonstrate that single SNP analysis fails to capture the cumulative effect of less significant variants and their overall contribution to the outcome in disease prediction, which is captured using a deep learning framework.