Salloum Said A, Alomari Khaled Mohammad, Salloum Ayham
School of Computing, Skyline University College, Sharjah, UAE.
Faculty of Information Technology, Abu Dhabi University, Abu Dhabi, UAE.
PLoS One. 2025 Jul 18;20(7):e0328253. doi: 10.1371/journal.pone.0328253. eCollection 2025.
Diabetes Mellitus is a global health concern, characterized by high blood sugar levels over a prolonged period, leading to severe complications if left unmanaged. The early identification of individuals at risk is critical for effective intervention and treatment. Traditional diagnostic methods rely heavily on clinical symptoms and biochemical tests, which may not capture the underlying genetic predispositions. With the advent of genomics, DNA sequence analysis has emerged as a promising approach to uncover the genetic markers associated with Diabetes Mellitus. However, the challenge lies in accurately classifying DNA sequences to predict susceptibility to the disease, given the complex nature of genetic data. This study addresses this challenge by employing two advanced machine learning models, NuSVC (Nu-Support Vector Classification) and XGBoost (Extreme Gradient Boosting), to classify DNA sequences related to Diabetes Mellitus. The dataset, obtained from reputable sources like NCBI, was preprocessed using Natural Language Processing (NLP) techniques, where DNA sequences were treated as textual data and transformed into numerical features using TF-IDF (Term Frequency-Inverse Document Frequency). To handle the class imbalance in the dataset, SMOTE (Synthetic Minority Over-sampling Technique) was applied. The models were trained and validated using 10-fold cross-validation. XGBoost was trained with up to 300 boosting rounds, and performance was evaluated using accuracy, precision, recall, F1-score, ROC-AUC, and log loss. The results demonstrate that XGBoost outperformed NuSVC across all metrics, achieving an accuracy of 98%, a log loss of 0.0650, and an AUC of 1.00, compared to NuSVC's accuracy of 87%, log loss of 0.2649, and AUC of 0.95. The superior performance of XGBoost indicates its robustness in handling complex genetic data and its potential utility in clinical applications for early diagnosis of Diabetes Mellitus. The findings of this study underscore the importance of advanced machine learning techniques in genomics and suggest that integrating such models into healthcare systems could significantly enhance predictive diagnostics.
糖尿病是一个全球性的健康问题,其特征是长期血糖水平升高,如果不加以控制,会导致严重并发症。早期识别高危个体对于有效干预和治疗至关重要。传统的诊断方法严重依赖临床症状和生化检测,可能无法捕捉潜在的遗传易感性。随着基因组学的出现,DNA序列分析已成为一种有前景的方法,用于发现与糖尿病相关的遗传标记。然而,鉴于遗传数据的复杂性,挑战在于准确分类DNA序列以预测疾病易感性。本研究通过采用两种先进的机器学习模型NuSVC(Nu支持向量分类)和XGBoost(极端梯度提升)对与糖尿病相关的DNA序列进行分类,来应对这一挑战。从NCBI等可靠来源获得的数据集,使用自然语言处理(NLP)技术进行预处理,其中DNA序列被视为文本数据,并使用TF-IDF(词频-逆文档频率)转换为数值特征。为了处理数据集中的类不平衡问题,应用了SMOTE(合成少数过采样技术)。使用10折交叉验证对模型进行训练和验证。XGBoost训练了多达300轮的提升,使用准确率、精确率、召回率、F1分数、ROC-AUC和对数损失来评估性能。结果表明,在所有指标上XGBoost均优于NuSVC,其准确率达到98%,对数损失为0.0650,AUC为1.00,而NuSVC的准确率为87%,对数损失为0.2649,AUC为0.95。XGBoost的卓越性能表明其在处理复杂遗传数据方面的稳健性及其在糖尿病早期诊断临床应用中的潜在效用。本研究结果强调了先进机器学习技术在基因组学中的重要性,并表明将此类模型整合到医疗系统中可显著提高预测诊断能力。