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A Selection of an Optimal Framework Identifying the Prominent Autism Risk Gene Biomarkers from Gene Expression Data Using Neural Network

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Abstract

Autism is not just the consequence of mutations in single genes but across many genes. The dynamic changes in genes are well expressed by gene expression microarray data. The potential role of researchers still persists in finding the most prominent genes that influence autism risk. In this work, microarray data collected has 146 samples of autism and a control group with 54,613 gene expression features. The features and samples suffer from dimensionality issues to train the machine learning model. To reduce the dimension of features without loss of generality, four feature selection methods are used to select 100 prominent genes each with statistical significance. The feature selection model is concatenated to the neural network classifier model for classification. The neural network model is configured with proper adjustments of hyper parameters. Each feature selection method is combined with a neural network model for the analysis of prominent genes to better the classification of autism. The metrics used to access the classification are accuracy and loss. The neural network model is trained for ten folds and tested for untrained data. The optimized framework shows an accuracy of 78.6% with a minimum loss of 0.694 for the untrained data. The optimized model is identified with a trade-off between accuracy and loss.

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References

  1. Kaliyappan K, Palanisamy M, Govindarajan R, Duraiyan J. Microarray and its applications. J Pharm Bioallied Sci. 2012;4:310.

    Article  Google Scholar 

  2. Latkowski T, Osowski S. Gene selection in autism—comparative study. Neurocomputing. 2017;250:37–44.

    Article  Google Scholar 

  3. Hameed SS, Hassan R, Muhammad FF. Selection and classification of gene expression in autism disorder: use of a combination of statistical filters and a GBPSO-SVM algorithm. PLoS ONE. 2017;12:1–25.

    Google Scholar 

  4. Liu S, et al. Feature selection of gene expression data for cancer classification using double RBF-kernels. BMC Bioinform. 2018;19:1–14.

    Article  MathSciNet  Google Scholar 

  5. Journal I, Factor I. biomed research international (J Biomed Biotechnol). Comput Math Methods Med. 2015;2015:2–4.

    Google Scholar 

  6. Wagner RF. From medical images to multiple-biomarker microarrays. Med Phys. 2007;34:4944–51.

    Article  Google Scholar 

  7. Asif M, Martiniano HF, Vicente AM, Couto FM. Identifying disease genes using machine learning and gene functional similarities, assessed through Gene Ontology. PLoS ONE. 2018;13:1–15.

    Article  Google Scholar 

  8. Latkowski T, Osowski S. Data mining for feature selection in gene expression autism data. Expert Syst Appl. 2015;42:864–72.

    Article  Google Scholar 

  9. Wang L, Audenaert P, Michoel T. High-dimensional bayesian network inference from systems genetics data using genetic node ordering. Front Genet. 2019;10:1–13.

    Article  Google Scholar 

  10. Roopa BS, Manjunatha Prasad R. Concatenating framework in ASD analysis towards research progress. In 1st international conference on advanced technologies in intelligent control, environment, computing and communication engineering. ICATIECE 2019; 2019. p. 269–71. https://doi.org/10.1109/ICATIECE45860.2019.9063816

  11. Roopa BS, Prasad RM. Identification of best fit learning models based on calibration for better classification of autism. Int J Eng Adv Technol. 2020;9:2090–4.

    Article  Google Scholar 

  12. Krishnan A, et al. Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. Nat Neurosci. 2016;19:1454–62. https://doi.org/10.1038/nn.4353

    Article  Google Scholar 

  13. Courchesne E, Pierce K. Brain overgrowth in autism during a critical time in development: implications for frontal pyramidal neuron and interneuron development and connectivity. Int J Dev Neurosci. 2005;23:153–70.

    Article  Google Scholar 

  14. Giorgia Canali, Marta Garcia, Bruno Hivert, Delphine Pinatel, Aline Goullancourt, et al. Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons. Human Molecular Genetics, Oxford University Press (OUP), pp.1941–1954. 2018. https://doi.org/10.1093/hmg/ddy102.hal-01963618.

  15. Rylaarsdam L, Guemez-Gamboa A. Genetic causes and modifiers of autism spectrum disorder. Front Cell Neurosci. 2019. https://doi.org/10.3389/fncel.2019.00385.

    Article  Google Scholar 

  16. Tost H, et al. A common allele in the oxytocin receptor gene (OXTR) impacts prosocial temperament and human hypothalamic-limbic structure and function. Proc Natl Acad Sci USA. 2010;107:13936–41.

    Article  Google Scholar 

  17. Wilson DS. Benign Application of Knowledge through Evolutionary Theory. In: Madhavan G, Oakley B, Kun L, editors. Career Development in Bioengineering and Biotechnology. Series in Biomedical Engineering. New York, NY: Springer; 2008. https://doi.org/10.1007/978-0-387-76495-5_67.

    Chapter  Google Scholar 

  18. Vissers LELM, et al. De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay. Am J Hum Genet. 2020;107:164–72.

    Article  Google Scholar 

  19. Winkler GS, Mulder KW, Bardwell VJ, Kalkhoven E, Timmers HTM. Human Ccr4-Not complex is a ligand-dependent repressor of nuclear receptor-mediated transcription. EMBO J. 2006;25:3089–99.

    Article  Google Scholar 

  20. Kruszka P, et al. A CCR4-NOT transcription complex, subunit 1, CNOT1, variant associated with holoprosencephaly. Am J Hum Genet. 2019;104:990–3.

    Article  Google Scholar 

  21. Alter MD, et al. Autism and increased paternal age related changes in global levels of gene expression regulation. PLoS ONE. 2011;6(2): https://doi.org/10.1371/journal.pone.0016715.

    Article  Google Scholar 

  22. Chen Y, Dougherty ER, Bittner ML, Meltzer P, Trent J. Microarray Image Analysis and Gene Expression Ratio Statistics. In: Zhang W, Shmulevich I, editors. Computational and Statistical Approaches to Genomics. Boston, MA: Springer; 2006. https://doi.org/10.1007/0-387-26288-1_1.

    Chapter  Google Scholar 

  23. Technically Speaking: Why We Use Random Sampling in Reading ResearchBy: Adam Reeger, M.S., Ariel M. Aloe, Ph.D., Posted on: November 12 2019.

  24. Jordan J. Neural networks: training with backpropagation (2017).

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Correspondence to B. S. Roopa.

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This article is part of the topical collection “Data Science and Communication” guest edited by Kamesh Namudri, Naveen Chilamkurti, Sushma S J and S. Padmashree.

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Roopa, B.S., Manjunatha Prasad, R. A Selection of an Optimal Framework Identifying the Prominent Autism Risk Gene Biomarkers from Gene Expression Data Using Neural Network. SN COMPUT. SCI. 2, 241 (2021). https://doi.org/10.1007/s42979-021-00559-y

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