Predicting Genetic Disorders: Implementation and Deployment on EC2 instances in AWS


Authors : DR M. Prabu; Aparmit Prakash; R. Yasir Abbas; Md Sawaiz Khan

Volume/Issue : Volume 10 - 2025, Issue 4 - April


Google Scholar : https://tinyurl.com/523fctsb

Scribd : https://tinyurl.com/2dcuzjrn

DOI : https://doi.org/10.38124/ijisrt/25apr1261

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Abstract : Genetic illnesses, caused by DNA mutations— either inherited or acquired—can lead to serious illnesses such as Alzheimer's, cancer, and Hemochromatosis. New developments in artificial intelligence have been promising for early disease detection. In this paper, we address the issue of predicting multiple genetic illnesses by suggesting two primary approaches: (1) a novel feature engineering approach that combines class probabilities from Extra Trees and Random Forest models, and (2) a classifier chain method where predictions from previous models impact subsequent ones. These approaches combined are intended to enhance early and precise detection of genetic conditions.

Keywords : Genome Mutation, Genetic Disorder, Machine Learning, Chain Classifier Approach.

References :

  1. Breiman, L. (2001). Random forests. Machine Learning, 45(1), 5–32. [Utilized Random Forests, commonly used for the analysis of genetic data.]
  2. Chen, T., & Guestrin, C. (2016). XGBoost: A scalable tree boosting system. Proceedings of the 22nd ACM SIGKDD International Conference on Knowledge Discovery and Data Mining, 785–794. [Presents XGBoost,  used widely in predictive modeling and bioinformatics.]
  3. Libbrecht, M. W., & Noble, W. S. (2015). Machine learning applications in genetics and genomics. Nature Reviews Genetics, 16(6), 321–332. [Describes broad applications of ML in genomics.]
  4. Min, S., Lee, B., & Yoon, S. (2017). Deep learning in bioinformatics. Briefings in Bioinformatics,18(5), 851–869. [Reviews ML and deep learning approaches in genomics.]
  5. Eriksson, R., Werling, D. M., et al. (2019). Predicting autism using machine learning on gene expression data. PLOS ONE, 14(12),e0226848. [Relevant study on predicting autism based on gene expression.]
  6. Abid, A., Balin, M. F., & Zou, J. (2019). Concrete Autoencoders for Differentiable Feature Selection and Reconstruction. International Conference on Machine Learning (ICML). [Feature selection methods applicable to genomic data.]
  7. Amazon Web Services (AWS). (2021). Amazon SageMaker: Developer Guide. https://docs.aws.amazon.com/sagemaker
  8. Shickel, B., Tighe, P. J., et al. (2018). Deep EHR: A survey of recent advances in deep learning techniques for electronic health record (EHR) analysis. IEEE Journal of Biomedical and Health Informatics, 22(5), 1589–1604.
  9. [Healthcare data background on ML models.] Schadt, E. E., et al. (2010). Genetics of gene expression surveyed in maize, mouse, and man. Nature, 464(7289), 768–772. [Insights into gene expression patterns and genetic diseases.] Kourou, K., Exarchos, T. P., et al. (2015). Machine learning applications in cancer prognosis and prediction. Computational and Structural Biotechnology Journal, 13, 8–17. [Example of ML in predictive genomics for cancer.]

Genetic illnesses, caused by DNA mutations— either inherited or acquired—can lead to serious illnesses such as Alzheimer's, cancer, and Hemochromatosis. New developments in artificial intelligence have been promising for early disease detection. In this paper, we address the issue of predicting multiple genetic illnesses by suggesting two primary approaches: (1) a novel feature engineering approach that combines class probabilities from Extra Trees and Random Forest models, and (2) a classifier chain method where predictions from previous models impact subsequent ones. These approaches combined are intended to enhance early and precise detection of genetic conditions.

Keywords : Genome Mutation, Genetic Disorder, Machine Learning, Chain Classifier Approach.

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