The use of class imbalanced learning methods on ULSAM data to predict the case–control status in genome-wide association studies
Abstract Machine learning (ML) methods for uncovering single nucleotide polymorphisms (SNPs) in genome-wide association study (GWAS) data that can be used to predict disease outcomes are becoming increasingly used in genetic research. Two issues with the use of ML models are finding the correct meth...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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SpringerOpen
2023-11-01
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| Series: | Journal of Big Data |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s40537-023-00853-x |
| _version_ | 1797414859308007424 |
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| author | R. Onur Öztornaci Hamzah Syed Andrew P. Morris Bahar Taşdelen |
| author_facet | R. Onur Öztornaci Hamzah Syed Andrew P. Morris Bahar Taşdelen |
| author_sort | R. Onur Öztornaci |
| collection | DOAJ |
| description | Abstract Machine learning (ML) methods for uncovering single nucleotide polymorphisms (SNPs) in genome-wide association study (GWAS) data that can be used to predict disease outcomes are becoming increasingly used in genetic research. Two issues with the use of ML models are finding the correct method for dealing with imbalanced data and data training. This article compares three ML models to identify SNPs that predict type 2 diabetes (T2D) status using the Support vector machine SMOTE (SVM SMOTE), The Adaptive Synthetic Sampling Approach (ADASYN), Random under sampling (RUS) on GWAS data from elderly male participants (165 cases and 951 controls) from the Uppsala Longitudinal Study of Adult Men (ULSAM). It was also applied to SNPs selected by the SMOTE, SVM SMOTE, ADASYN, and RUS clumping method. The analysis was performed using three different ML models: (i) support vector machine (SVM), (ii) multilayer perceptron (MLP) and (iii) random forests (RF). The accuracy of the case–control classification was compared between these three methods. The best classification algorithm was a combination of MLP and SMOTE (97% accuracy). Both RF and SVM achieved good accuracy results of over 90%. Overall, methods used against unbalanced data, all three ML algorithms were found to improve prediction accuracy. |
| first_indexed | 2024-03-09T05:40:00Z |
| format | Article |
| id | doaj.art-4b6d27f55b894c45b3ebdea0af8933f6 |
| institution | Directory Open Access Journal |
| issn | 2196-1115 |
| language | English |
| last_indexed | 2024-03-09T05:40:00Z |
| publishDate | 2023-11-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Journal of Big Data |
| spelling | doaj.art-4b6d27f55b894c45b3ebdea0af8933f62023-12-03T12:25:44ZengSpringerOpenJournal of Big Data2196-11152023-11-0110112810.1186/s40537-023-00853-xThe use of class imbalanced learning methods on ULSAM data to predict the case–control status in genome-wide association studiesR. Onur Öztornaci0Hamzah Syed1Andrew P. Morris2Bahar Taşdelen3Koç University Research Centre for Translational Medicine, Koç UniversityKoç University Research Centre for Translational Medicine, Koç UniversityDivision of Musculoskeletal and Dermatological Sciences, University of ManchesterFaculty of Medicine, Department of Biostatistics and Medical Informatics, Mersin UniversityAbstract Machine learning (ML) methods for uncovering single nucleotide polymorphisms (SNPs) in genome-wide association study (GWAS) data that can be used to predict disease outcomes are becoming increasingly used in genetic research. Two issues with the use of ML models are finding the correct method for dealing with imbalanced data and data training. This article compares three ML models to identify SNPs that predict type 2 diabetes (T2D) status using the Support vector machine SMOTE (SVM SMOTE), The Adaptive Synthetic Sampling Approach (ADASYN), Random under sampling (RUS) on GWAS data from elderly male participants (165 cases and 951 controls) from the Uppsala Longitudinal Study of Adult Men (ULSAM). It was also applied to SNPs selected by the SMOTE, SVM SMOTE, ADASYN, and RUS clumping method. The analysis was performed using three different ML models: (i) support vector machine (SVM), (ii) multilayer perceptron (MLP) and (iii) random forests (RF). The accuracy of the case–control classification was compared between these three methods. The best classification algorithm was a combination of MLP and SMOTE (97% accuracy). Both RF and SVM achieved good accuracy results of over 90%. Overall, methods used against unbalanced data, all three ML algorithms were found to improve prediction accuracy.https://doi.org/10.1186/s40537-023-00853-xMachine learningClass imbalanced methodsGWASULSAM study |
| spellingShingle | R. Onur Öztornaci Hamzah Syed Andrew P. Morris Bahar Taşdelen The use of class imbalanced learning methods on ULSAM data to predict the case–control status in genome-wide association studies Journal of Big Data Machine learning Class imbalanced methods GWAS ULSAM study |
| title | The use of class imbalanced learning methods on ULSAM data to predict the case–control status in genome-wide association studies |
| title_full | The use of class imbalanced learning methods on ULSAM data to predict the case–control status in genome-wide association studies |
| title_fullStr | The use of class imbalanced learning methods on ULSAM data to predict the case–control status in genome-wide association studies |
| title_full_unstemmed | The use of class imbalanced learning methods on ULSAM data to predict the case–control status in genome-wide association studies |
| title_short | The use of class imbalanced learning methods on ULSAM data to predict the case–control status in genome-wide association studies |
| title_sort | use of class imbalanced learning methods on ulsam data to predict the case control status in genome wide association studies |
| topic | Machine learning Class imbalanced methods GWAS ULSAM study |
| url | https://doi.org/10.1186/s40537-023-00853-x |
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