Genomic data analysis is essential for personalized medicine, disease diagnostics, and understanding evolutionary biology, yet remains challenging due to high dimensionality and sequence complexity. Quantum Machine Learning (QML) offers promising computational advantages for scalable genomic analysis. We explore QML modeling for genomic sequence classification using 100,000 sequences from two transcript classes. Our new framework incorporates PCA dimensionality reduction and evaluates multiple quantum feature maps (ZFeatureMap, ZZFeatureMap, PauliFeatureMap). Results show Pegasos-QSVC achieving 99.12% recall and 67.41% F1 score, while QNNs reach 54.38% training accuracy. Performance varies across feature maps, with some models exhibiting overfitting.
Genomic data analysis is essential for personalized medicine, disease diagnostics, and understanding evolutionary biology, yet remains challenging due to high dimensionality and sequence complexity. Quantum Machine Learning (QML) offers promising computational advantages for scalable genomic analysis. We explore QML modeling for genomic sequence classification using 100,000 sequences from two transcript classes. Our new framework incorporates PCA dimensionality reduction and evaluates multiple quantum feature maps (ZFeatureMap, ZZFeatureMap, PauliFeatureMap). Results show Pegasos-QSVC achieving 99.12% recall and 67.41% F1 score, while QNNs reach 54.38% training accuracy. Performance varies across feature maps, with some models exhibiting overfitting.
Quantum Machine Learning (QML) continues to evolve, unlocking new opportunities for diverse applications. In this study, we investigate and evaluate the applicability of QML models for binary classification of genome sequence data by employing various feature mapping techniques. We present an open-source, independent Qiskit-based implementation to conduct experiments on a benchmark genomic dataset. Our simulations reveal that the interplay between feature mapping techniques and QML algorithms significantly influences performance. Notably, the Pegasos Quantum Support Vector Classifier (Pegasos-QSVC) exhibits high sensitivity, particularly excelling in recall metrics, while Quantum Neural Networks (QNN) achieve the highest training accuracy across all feature maps. However, the pronounced variability in classifier performance, dependent on feature mapping, highlights the risk of overfitting to localized output distributions in certain scenarios. This work underscores the transformative potential of QML for genomic data classification while emphasizing the need for continued advancements to enhance the robustness and accuracy of these methodologies.
Introduction: In recent years, high-dimensional clinical and genomic data have gained significant importance for prognosis and personalized medicine in breast cancer. But the use of quantum machine learning (QML) on such data is limited by the availability of few qubits, the computation time of quantum simulation, and dimensionality reduction. This work systematically compares several QML architectures for breast cancer classification in the presence of realistic and simulator constraints. Methods: The experiments were performed on a dataset of METABRIC breast cancer patients (2,509 patients). After handling missing values and one-hot encoding, there were 63 features in the processed data set. The feature space was reduced by Principal Component Analysis (PCA) to 12, 4 and 2 components for the implementations of quantum computers, respectively, with 56.10 ± 0.14%, 26.78 ± 0.57% and 16.23 ± 0.33% of the variance retained. Three QML models were tested: Quantum Neural Networks (QNN), Quantum K-Nearest Neighbors (QKNN), and Quantum Support Vector Machines (QSVM), with the models being simulated. Seven classical classification models were tested: Logistic Regression, SVM with RBF kernel, K-Nearest Neighbors, Random Forest, XGBoost, LightGBM and Multilayer Perceptron, both with PCA-matched and full 63-feature representation. All primary results are reported with 5-fold cross validation. Results: Among the evaluated QML architectures, QKNN using 12 principal components achieved the strongest performance, attaining an accuracy of **75.11% ± 3.76%**, an F1-score of **0.7088 ± 0.0433**, and a ROC-AUC of **0.8148 ± 0.0394**. Even though all of the QML models performed significantly poorly in comparison to classical models trained on the entire 63-feature data set, the latter models were able to achieve about **94% accuracy** with XGBoost, Random Forest, and Logistic Regression. The comparison also showed the effect of information loss due to PCA is significant in predictive performance in both classical and quantum models. Discussion: The results show that for high dimensional breast cancer data, currently available simulator-based QML models can learn meaningful patterns with limited quantum resources, but are not as effective as powerful classical machine learning models when complete feature representations are available. The study does not report any sort of quantum advantage or clinical use, but rather a benchmark of current QML architectures that has been rigorously calculated and repeated, with a focus on the impact of dimensionality reduction, validation approaches, and simulator limitations, as well as outlining challenges that need to be overcome prior to practical implementation on real quantum hardware.
Quantum Machine Learning (QML) offers significant potential for complex tasks like genome sequence classification, but quantum noise on Noisy Intermediate-Scale Quantum (NISQ) devices poses practical challenges. This study systematically evaluates how various quantum noise models including dephasing, amplitude damping, depolarizing, thermal noise, bit-flip, and phase-flip affect key QML algorithms (QSVC, Peg-QSVC, QNN, VQC) and feature mapping techniques (ZFeatureMap, ZZFeatureMap, and PauliFeatureMap). Results indicate that QSVC is notably robust under noise, whereas Peg-QSVC and QNN are more sensitive, particularly to depolarizing and amplitude-damping noise. The PauliFeatureMap is especially vulnerable, highlighting difficulties in maintaining accurate classification under noisy conditions. These findings underscore the critical importance of feature map selection and noise mitigation strategies in optimizing QML for genomic classification, with promising implications for personalized medicine.
The rapid advancements in genomics and the availability of large-scale genetic datasets have revolutionized our understanding of genetic diseases. However, the complexity and high dimensionality of genomic data pose significant computational challenges for classical machine learning (ML) algorithms. Quantum machine learning (QML), an emerging interdisciplinary field that combines quantum computing with ML techniques, offers a promising solution to address these challenges. This paper explores the application of QML algorithms for diagnosing genetic diseases by leveraging the unique properties of quantum computing, such as superposition, entanglement, and quantum parallelism. A novel hybrid quantum-classical approach is proposed to enhance the accuracy and efficiency of disease diagnosis using genomic datasets. The methodology involves encoding genetic data into quantum states, applying quantum-enhanced feature selection and classification algorithms, and validating the results on publicly available datasets, such as the UK Biobank and the Cancer Genome Atlas (TCGA). Experimental results demonstrate that the proposed QML framework achieves higher classification accuracy and faster computation times compared to classical counterparts. Equations, tables, and charts are used to illustrate the effectiveness of the approach. This research highlights the transformative potential of QML in precision medicine and lays the groundwork for future investigations into quantum-enabled healthcare solutions.
Quantum computing has reintroduced itself as a breakthrough technology for machine learning, especially in the analysis of massive datasets, especially the genomic ones. The present research focuses on using QML, namely QSVM, to parse sequences, discover features relating to multiple genetic alterations, biomarkers, and gene expression patterns. The data type under consideration, namely genomic data, is high-dimensional and complex, which presents some problems to the computational methods originating from traditional mathematics. QSVM is designed to work with the mathematical foundations of quantum mechanics including superposition and entanglement and for this reason, it solves problems associated with large scale genomic data more efficiently and accurately. The application of QSVM in MEPs confirms its superiority over classical counterparts in classifying gene mutations, clustering of expression profiles or prediction of disease susceptibility. In addition, through feature mapping, QSVM offers better insights into biological information contained on genomic data, as compared to linear correlations. Furthermore, the ability of QML frameworks to expand to fit the increasing amount of data produced by next-generation sequencing technologies is assessed. Leveraging on this research QSVM has been recognised to redefine precision medicine by rapidly diagnosing diseases and providing unique therapeutic options. The results re-echo the potential of QML in transforming CG and promoting future innovations in biomedicine and health.