Abstract
Thanks to next-generation sequencing techniques, a very big amount of genomic data are available. Therefore, in the last years, biomedical databases are growing more and more. Analyzing this big amount of data with bioinformatics and big data techniques could lead to the discovery of new knowledge for the treatment of serious diseases. In this work, we deal with the splicing site prediction problem in DNA sequences by using supervised machine learning algorithms included in the MLlib library of Apache Spark, a fast and general engine for big data processing. We show the implementation details and the performance of those algorithms on two public available datasets adopting both local and cloud environments, emphasizing the importance of this last environment for its scalability and elasticity of use. We compare the performance of the algorithms with U-BRAIN, a general-purpose learning algorithm originally designed for the prediction of DNA splicing sites. Results show that, among the Spark algorithms, all have good prediction accuracy (>0.9)—that is comparable with the one of U-BRAIN—and much lower execution time. Therefore, we can state that Apache Spark machine learning algorithms are promising candidates for dealing with the DNA splicing site prediction problem.
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References
Maxwell, W.L., Noble, W.S.: Machine learning applications in genetics and genomics. Nat. Rev. Genet. 16(6), 321 (2015)
Weitschek, E., Fiscon, G., Fustaino, V., Felici, G., Bertolazzi, P.: Clustering and classification techniques for gene expression profile pattern analysis. In: Pattern Recognition in Computational Molecular Biology: Techniques and Approaches, p. 347 (2015)
Apache Spark Home page. http://spark.apache.org/. Last accessed 10 April 2018
Zaharia, M., et al.: Apache spark: a unified engine for big data processing. Commun. ACM 59(11), 56–65 (2016)
Rampone, S.: Recognition of splice junctions on DNA sequences by BRAIN learning algorithm. Bioinformatics (Oxford, England) 14(8), 676–684 (1998)
Morfino, V. Rampone, S.: Metodi ed architetture per la creazione di applicazioni multicanale per la bioinformatica. In: Ceccarell, M., Colantuoni, V., Graziano, G., Rampone, S. (eds.) Bioinformatica. Sfide e prospettive. Edizioni Franco Angeli (2007)
Rampone, S., Russo, C.: A fuzzified brain algorithm for learning DNF from incomplete data. Electron. J. Appl. Statistical Anal. (EJASA) 5(2), 256–270 (2012)
Rampone, S.: An error tolerant software equipment for human DNA characterization. IEEE Trans. Nucl. Sci. 51(5), 2018–2026 (2004)
D’Angelo, G., Rampone, S.: Towards a HPC-oriented parallel implementation of a learning algorithm for bioinformatics applications. BMC Bioinform. 15(5), S2 (2014)
Aloisio, A., Izzo, V., Rampone, S.: FPGA implementation of a greedy algorithm for set covering, In: 14TH IEEE-NPSS Real Time Conference, IEEE (2005)
D’Angelo, G., Palmieri, F., Ficco, M., Rampone, S.: An uncertainty-managing batch relevance-based approach to network anomaly detection. Appl. Soft Comput. J. 35, 408–418 (2015)
D’Angelo, G., Rampone, S.: Diagnosis of aerospace structure defects by a HPC implemented soft computing algorithm. In: IEEE Metrology for Aerospace (MetroAeroSpace), pp. 408–412. IEEE (2014)
D’Angelo, G., Rampone, S.: Feature extraction and soft computing methods for aerospace structure defect classification. Meas. J. Int. Meas. Confederation 85, 192–209 (2016)
Kimmel, G., Farkash, A.: Lecturer Ron Shamir, “Algorithms for Molecular Biology”, Lecture 1: 25 Oct 2001, Fall Semester, Tel Aviv University (2001)
Jo, Bong-Seok, Choi, Sun Shim: Introns: the functional benefits of introns in genomes. Genomics Informatics 13(4), 112–118 (2015)
Karau, H., Warren, R.: High Performance Spark: Best Practices for Scaling and Optimizing Apache Spark. O’Reilly Media, Inc. (2017)
Bache, K., Lichman, M: UCI Machine Learning Repository. University of California, School of Information and Computer Science, Irvine, CA (2013). http://archive.ics.uci.edu/ml. Last accessed 10 April 2018
Pollastro, P., Rampone, S.: HS3D, a dataset of Homo sapiens splice regions, and its extraction procedure from a major public database. Int. J. Mod. Phys. C 13(8), 1105–1117 (2003)
Forbes, S.A.: COSMIC: mining complete cancer genomes in the catalogue of somatic mutations in cancer. Nucleic Acids Res. 39(suppl 1), D945–D950 (2011)
Databricks Home page. https://databricks.com/. Last accessed 10 April 2018
Kennedy, J.: Encyclopedia of Machine Learning. Springer, US (2011)
Cestarelli, V., Fiscon, G., Felici, G., Bertolazzi, P., Weitschek, E.: CAMUR: Knowledge extraction from RNA-seq cancer data through equivalent classification rules. Bioinformatics 32(5), 697–704 (2016)
Dean, J., Ghemawat, S.: MapReduce: simplified data processing on large clusters. Commun. ACM 51(1), 107–113 (2008)
Celli, F., Cumbo, F., Weitschek, E.: Classification of large DNA methylation datasets for identifying cancer drivers. Big Data Res. 13, 21–28 (2018)
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Morfino, V., Rampone, S., Weitschek, E. (2020). A Comparison of Apache Spark Supervised Machine Learning Algorithms for DNA Splicing Site Prediction. In: Esposito, A., Faundez-Zanuy, M., Morabito, F., Pasero, E. (eds) Neural Approaches to Dynamics of Signal Exchanges. Smart Innovation, Systems and Technologies, vol 151. Springer, Singapore. https://doi.org/10.1007/978-981-13-8950-4_13
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DOI: https://doi.org/10.1007/978-981-13-8950-4_13
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