Development and Validation of a Machine Learning Model Using Administrative Health Data to Predict Onset of Type 2 Diabetes

Abstract Background Genotype–phenotype predictions are of great importance in genetics. These predictions can help to find genetic mutations causing variations in human beings. There are many approaches for finding the association which can be broadly categorized into two classes, statistical techniques, and machine learning. Statistical techniques are good for finding the actual SNPs causing variation where Machine Learning techniques are good where we just want to classify the people into different categories. In this article, we examined the Eye-color and Type-2 diabetes phenotype. The proposed technique is a hybrid approach consisting of some parts from statistical techniques and remaining from Machine learning. Results The main dataset for Eye-color phenotype consists of 806 people. 404 people have Blue-Green eyes where 402 people have Brown eyes. After preprocessing we generated 8 different datasets, containing different numbers of SNPs, using the mutation difference and thresholding at individual SNP. We calculated three types of mutation at each SNP no mutation, partial mutation, and full mutation. After that data is transformed for machine learning algorithms. We used about 9 classifiers, RandomForest, Extreme Gradient boosting, ANN, LSTM, GRU, BILSTM, 1DCNN, ensembles of ANN, and ensembles of LSTM which gave the best accuracy of 0.91, 0.9286, 0.945, 0.94, 0.94, 0.92, 0.95, and 0.96% respectively. Stacked ensembles of LSTM outperformed other algorithms for 1560 SNPs with an overall accuracy of 0.96, AUC = 0.98 for brown eyes, and AUC = 0.97 for Blue-Green eyes. The main dataset for Type-2 diabetes consists of 107 people where 30 people are classified as cases and 74 people as controls. We used different linear threshold to find the optimal number of SNPs for classification. The final model gave an accuracy of 0.97%. Conclusion Genotype–phenotype predictions are very useful especially in forensic. These predictions can help to identify SNP variant association with traits and diseases. Given more datasets, machine learning model predictions can be increased. Moreover, the non-linearity in the Machine learning model and the combination of SNPs Mutations while training the model increases the prediction. We considered binary classification problems but the proposed approach can be extended to multi-class classification.

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Eye-Color and Type-2 Diabetes Phenotype Prediction From Genotype Data Using Deep Learning Methods

10.21203/rs.3.rs-125397/v1 ◽

2020 ◽

Author(s):

Muhammad Muneeb ◽

Andreas Henschel

Keyword(s):

Machine Learning ◽

Type 2 Diabetes ◽

Learning Model ◽

Machine Learning Algorithms ◽

Statistical Techniques ◽

Human Beings ◽

Eye Color ◽

Machine Learning Model ◽

Extreme Gradient Boosting

Abstract Background: Genotype-Phenotype predictions are of great importance in genetics. These predictions can help to find genetic mutations causing variations in human beings. There are many approaches for finding the association which can be broadly categorized into two classes, statistical techniques, and machine learning. Statistical techniques are good for finding the actual SNPs causing variation where Machine Learning techniques are good where we just want to classify the people into different categories. In this article, we examined the Eye-color and Type-2 diabetes phenotype. The proposed technique is a hybrid approach consisting of some parts from statistical techniques and remaining from Machine learning. Results: The main dataset for Eye-color phenotype consists of 806 people. 404 people have Blue-Green eyes where 402 people have Brown eyes. After preprocessing we generated 8 different datasets, containing different numbers of SNPs, using the mutation difference and thresholding at individual SNP. We calculated three types of mutation at each SNP no mutation, partial mutation, and full mutation. After that data is transformed for machine learning algorithms. We used about 9 classifiers, RandomForest, Extreme Gradient boosting, ANN, LSTM, GRU, BILSTM, 1DCNN, ensembles of ANN, and ensembles of LSTM which gave the best accuracy of 0.91, 0.9286, 0.945, 0.94, 0.94, 0.92, 0.95, and 0.96 percent respectively. Stacked ensembles of LSTM outperformed other algorithms for 1560 SNPs with an overall accuracy of 0.96, AUC = 0.98 for brown eyes, and AUC = 0.97 for Blue-Green eyes. The main dataset for Type-2 diabetes consists of 107 people where 30 people are classified as cases and 74 people as controls. We used different linear threshold to find the optimal number of SNPs for classification. The final model gave an accuracy of 0.97 percent. Conclusion: Genotype-phenotype predictions are very useful especially in forensic. These predictions can help to identify SNP variant association with traits and diseases. Given more datasets, machine learning model predictions can be increased. Moreover, the non-linearity in the Machine learning model and the combination of SNPs Mutations while training the model increases the prediction. We considered binary classification problems but the proposed approach can be extended to multi-class classification.

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Author Correction: Geographically weighted machine learning model for untangling spatial heterogeneity of type 2 diabetes mellitus (T2D) prevalence in the USA

Scientific Reports ◽

10.1038/s41598-021-97279-3 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Sarah Quiñones ◽

Aditya Goyal ◽

Zia U. Ahmed

Keyword(s):

Diabetes Mellitus ◽

Machine Learning ◽

Type 2 Diabetes ◽

Type 2 Diabetes Mellitus ◽

Spatial Heterogeneity ◽

Learning Model ◽

Machine Learning Model ◽

The Usa

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Geographically weighted machine learning model for untangling spatial heterogeneity of type 2 diabetes mellitus (T2D) prevalence in the USA

Scientific Reports ◽

10.1038/s41598-021-85381-5 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Sarah Quiñones ◽

Aditya Goyal ◽

Zia U. Ahmed

Keyword(s):

Diabetes Mellitus ◽

Machine Learning ◽

Risk Factors ◽

Type 2 Diabetes ◽

Type 2 Diabetes Mellitus ◽

Spatial Heterogeneity ◽

Learning Model ◽

Machine Learning Model ◽

Non Parametric

AbstractType 2 diabetes mellitus (T2D) prevalence in the United States varies substantially across spatial and temporal scales, attributable to variations of socioeconomic and lifestyle risk factors. Understanding these variations in risk factors contributions to T2D would be of great benefit to intervention and treatment approaches to reduce or prevent T2D. Geographically-weighted random forest (GW-RF), a tree-based non-parametric machine learning model, may help explore and visualize the relationships between T2D and risk factors at the county-level. GW-RF outputs are compared to global (RF and OLS) and local (GW-OLS) models between the years of 2013–2017 using low education, poverty, obesity, physical inactivity, access to exercise, and food environment as inputs. Our results indicate that a non-parametric GW-RF model shows a high potential for explaining spatial heterogeneity of, and predicting, T2D prevalence over traditional local and global models when inputting six major risk factors. Some of these predictions, however, are marginal. These findings of spatial heterogeneity using GW-RF demonstrate the need to consider local factors in prevention approaches. Spatial analysis of T2D and associated risk factor prevalence offers useful information for targeting the geographic area for prevention and disease interventions.

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