Wide and deep learning based approaches for classification of Alzheimer's disease using genome-wide association studies

The increasing incidence of Alzheimer's disease (AD) has been leading towards a significant growth in socioeconomic challenges. A reliable prediction of AD might be useful to mitigate or at-least slow down its progression for which, identification of the factors affecting the AD and its accurate diagnoses, are vital. In this study, we use Genome-Wide Association Studies (GWAS) dataset which comprises significant genetic markers of complex diseases. The original dataset contains large number of attributes (620901) for which we propose a hybrid feature selection approach based on association test, principal component analysis, and the Boruta algorithm, to identify the most promising predictors of AD. The selected features are then forwarded to a wide and deep neural network models to classify the AD cases and healthy controls. The experimental outcomes indicate that our approach outperformed the existing methods when evaluated on standard dataset, producing an accuracy and f1-score of 99%. The outcomes from this study are impactful particularly, the identified features comprising AD-associated genes and a reliable classification model that might be useful for other chronic diseases

Machine learning approaches and applications in genome wide association study for Alzheimer’s Disease: A systematic review

Machine learning algorithms have been used for detection (and possibly) prediction of Alzheimer’s disease using genotype information, with the potential to enhance the outcome prediction. However, detailed research about the analysis and the detection of Alzheimer’s disease using genetic data is still in its primitive stage. The aim of this paper was to evaluate the scientific literature on the use of various machine learning approaches for the prediction of Alzheimer’s disease based solely on genetic data. To identify gaps in the literature, critically appraise the reporting and methods of the algorithms, and provide the foundation for a wider research programme focused on developing novel machine learning based predictive algorithms in Alzheimer’s disease. A systematic review of quantitative studies was conducted using three search engines (PubMed, Web of Science and Scopus), and included studies between 1st of January 2010 and 31st December 2021. Keywords used were ‘Alzheimer’s disease(s)’, ‘GWAS, ‘Artificial intelligence’ and their synonyms. After applying the inclusion/exclusion criteria, 24 studies were included. Machine learning methods in the reviewed papers performed in a wide range of ways (0.59 to 0.98 AUC). The main findings showed that high risk of bias in the analysis can be linked to feature selection, hyperparameter search and validation methods

Transfer Learning for Classification of Alzheimer's Disease Based on Genome Wide Data

Alzheimer's disease (AD) is a type of brain disorder that is regarded as a degenerative disease because the corresponding symptoms aggravate with the time progression. Single nucleotide polymorphisms (SNPs) have been identified as relevant biomarkers for this condition. This study aims to identify SNPs biomarkers associated with the AD in order to perform a reliable classification of AD. In contrast to existing related works, we utilize deep transfer learning with varying experimental analysis for reliable classification of AD. For this purpose, the convolutional neural networks (CNN) are firstly trained over the genome-wide association studies (GWAS) dataset requested from the AD neuroimaging initiative. We then employ the deep transfer learning for further training of our CNN (as base model) over a different AD GWAS dataset, to extract the final set of features. The extracted features are then fed into Support Vector Machine for classification of AD. Detailed experiments are performed using multiple datasets and varying experimental configurations. The statistical outcomes indicate an accuracy of 89% which is a significant improvement when benchmarked with existing related works

An explainable machine learning approach for Alzheimer’s disease classification

The early diagnosis of Alzheimer’s Disease (AD) presents a significant challenge due to the subtle biomarker changes often overlooked. Machine learning (ML) models offer a promising tool for identifying individuals at risk of AD. However, current research tends to prioritize ML accuracy while neglecting the crucial aspect of model explainability. The diverse nature of AD data and the limited dataset size introduce additional challenges, primarily related to high dimensionality. In this study, we leveraged a dataset obtained from the National Alzheimer’s Coordinating Center, comprising 169,408 records and 1,024 features. After applying various steps to reduce the feature space. Notably, Support Vector Machine (SVM) models trained on the selected features exhibited high performance when tested on an external dataset. SVM achieved a high F1 score of 98.9% for binary classification (distinguishing between NC and AD) and 90.7% for multiclass classification. urthermore, SVM was able to predict AD progression over a four-year period, with F1 scores reached 88% for binary task and 72.8% for multiclass task. To enhance model explainability, we employed two rule-extraction approaches: Class rule mining and Stable and interpretable rule Set for classification model. These approaches generated human-understandable rules to assist domain experts in comprehending the key factors involved in AD development. We further validated these rules using SHAP and LIME models, underscoring the significance of factors such as MEMORY, JUDGMENT, COMMUN, and ORIENT in determining AD risk. Our experimental outcomes also shed light on the crucial role of the Clinical Dementia Rating tool in predicting AD