Abstract
Single-nucleotide polymorphisms (SNPs) are genetic markers that empower researchers to examine for genes associated with complex diseases. Several efforts have been contributed by researchers to study the interaction effects between multi-locus SNPs for discerning the status of complex diseases. However, the current conventional machine learning techniques are still left with several caveats. Deep learning is a new breed of machine learning technique that elucidates the hidden structure of the raw data by transforming it into multiple high levels of abstractions, using the power of parallel and distributed computing. It promises empirical success in the number of applications including bioinformatics to drive insights of biological complexities. The deep learning approach in the multi-locus interaction studies is yet to meet its potential achievements. In this paper, a convolutional neural network is trained to identify true causative two-locus SNP interactions. The performance of the method is evaluated on hypertension data. Highly ranked two-locus SNP interactions are identified for the manifestation of hypertension.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Bush, W.S., Moore, J.H.: Genome-wide association studies. PLoS Comput. Biol. 8(12), e1002822 (2012)
Onay, V.Ü., et al.: SNP-SNP interactions in breast cancer susceptibility. BMC Cancer 6, 114 (2006)
Padyukov, L.: Between the Lines of Genetic Code: Genetic Interactions in Understanding Disease and Complex Phenotypes. Academic Press, Cambridge (2013)
Uppu, S., Krishna, A., Gopalan, R.: A review on methods for detecting SNP interactions in high-dimensional genomic data. IEEE/ACM Trans. Comput. Biol. Bioinf. 15(2), 599–612 (2018)
Ritchie, M.D., et al.: Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am. J. Hum. Genet. 69, 138–147 (2001)
Schwender, H., Ickstadt, K.: Identification of SNP interactions using logic regression. Biostatistics 9, 187–198 (2008)
Wang, Y., Liu, X., Robbins, K., Rekaya, R.: AntEpiSeeker: detecting epistatic interactions for case-control studies using a two-stage ant colony optimization algorithm. BMC Res. Notes 3, 117 (2010)
Tang, W., Wu, X., Jiang, R., Li, Y.: Epistatic module detection for case-control studies: a Bayesian model with a Gibbs sampling strategy. PLoS Genet. 5, e1000464 (2009)
Zhang, Y., Liu, J.S.: Bayesian inference of epistatic interactions in case-control studies. Nat. Genet. 39, 1167–1173 (2007)
Wan, X., et al.: BOOST: a fast approach to detecting gene-gene interactions in genome-wide case-control studies. Am. J. Hum. Genet. 87, 325–340 (2010)
Motsinger, A.A., Lee, S.L., Mellick, G., Ritchie, M.D.: GPNN: power studies and applications of a neural network method for detecting gene-gene interactions in studies of human disease. BMC Bioinform. 7, 39 (2006)
Fang, Y.H., Chiu, Y.F.: SVM-based generalized multifactor dimensionality reduction approaches for detecting gene-gene interactions in family studies. Genet. Epidemiol. 36, 88–98 (2012)
Purcell, S., et al.: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559–575 (2007)
Schwarz, D.F., König, I.R., Ziegler, A.: On safari to Random Jungle: a fast implementation of Random Forests for high-dimensional data. Bioinformatics 26, 1752–1758 (2010)
LeCun, Y., Bengio, Y., Hinton, G.: Deep learning. Nature 521, 436–444 (2015)
Min, S., Lee, B., Yoon, S.: Deep learning in bioinformatics. Brief. Bioinform. 18(5), 851–869 (2016)
Uppu, S., Krishna, A., Gopalan, R.P.: A deep learning approach to detect SNP interactions. JSW 11, 965–975 (2016)
Uppu, S., Krishna, A.: Improving strategy for discovering interacting genetic variants in association studies. In: Hirose, A., Ozawa, S., Doya, K., Ikeda, K., Lee, M., Liu, D. (eds.) ICONIP 2016. LNCS, vol. 9947, pp. 461–469. Springer, Cham (2016). https://doi.org/10.1007/978-3-319-46687-3_51
Bengio, Y., Goodfellow, I.J., Courville, A.: Deep learning. An MIT Press book in Preparation (2015). http://www.iro.umontreal.ca/~bengioy/dlbook
Uppu, S., Krishna, A.: Tuning hyperparameters for gene interaction models in genome-wide association studies. In: Liu, D., Xie, S., Li, Y., Zhao, D., El-Alfy, El-Sayed M. (eds.) ICONIP 2017. LNCS, vol. 10638, pp. 791–801. Springer, Cham (2017). https://doi.org/10.1007/978-3-319-70139-4_80
Wu, S.J., Chiang, F.T., Chen, W. J., Liu, P.H., Hsu, K.L., Hwang, J.J., Lai, L.P., Lin, J.L., Tseng, C.D., Tseng, Y.Z.: Three single-nucleotide polymorphisms of the angiotensinogen gene and susceptibility to hypertension: single locus genotype vs. haplotype analysis. Physiol. Genomics 17, 79–86 (2004)
Wu, J.: Introduction to convolutional neural networks. National Key Lab for Novel Software Technology, Nanjing University, China (2017)
Moore, J.H., Hahn, L.W., Ritchie, M.D., Thornton, T.A., White, B.C.: Application of genetic algorithms to the discovery of complex models for simulation studies in human genetics. In Proceedings of the Genetic and Evolutionary Computation Conference/GECCO, p. 1150 (2002)
Ritchie, M.D., Hahn, L.W., Moore, J.H.: Power of multifactor dimensionality reduction for detecting gene-gene interactions in the presence of genotyping error, missing data, phenocopy, and genetic heterogeneity. Genet. Epidemiol. 24, 150–157 (2003)
Urbanowicz, R.J., Kiralis, J., Sinnott-Armstrong, N.A., Heberling, T., Fisher, J.M., Moore, J.H.: GAMETES: a fast, direct algorithm for generating pure, strict, epistatic models with random architectures. BioData Min. 5, 1–14 (2012)
Uppu, S., Krishna, A., Gopalan, R.P.: Rule-based analysis for detecting epistasis using associative classification mining. Netw. Model. Anal. Health Inform. Bioinform. 4, 1–19 (2015)
Candel, A., Parmar, V., LeDell, E., Arora, A.: Deep Learning with H2O (2015)
Chen, T., et al.: MXNet: a flexible and efficient machine learning library for heterogeneous distributed systems. arXiv preprint arXiv:1512.01274 (2015)
Glander, S.: Building deep neural nets with H2O and rsparkling that predict arrhythmia of the heart (2017). https://shiring.github.io/machine_learning/2017/02/27/h2o
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer Nature Switzerland AG
About this paper
Cite this paper
Uppu, S., Krishna, A. (2018). Convolutional Model for Predicting SNP Interactions. In: Cheng, L., Leung, A., Ozawa, S. (eds) Neural Information Processing. ICONIP 2018. Lecture Notes in Computer Science(), vol 11305. Springer, Cham. https://doi.org/10.1007/978-3-030-04221-9_12
Download citation
DOI: https://doi.org/10.1007/978-3-030-04221-9_12
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-04220-2
Online ISBN: 978-3-030-04221-9
eBook Packages: Computer ScienceComputer Science (R0)