DNA microarray technology enables the simultaneous measurement of expression levels of thousands of genes, thereby facilitating the understanding of the molecular mechanisms underlying complex diseases such as brain tumors and the identification of diagnostic genetic signatures. To derive meaningful biological insights from the high-dimensional and complex gene features obtained through this technology and to analyze gene properties in detail, classical AI-based approaches such as machine learning and deep learning are widely employed. However, these methods face various limitations in managing high-dimensional vector spaces and modeling the intricate relationships among genes. In particular, challenges such as hyperparameter tuning, computational costs, and high processing power requirements can hinder their efficiency. To overcome these limitations, quantum computing and quantum AI approaches are gaining increasing attention. Leveraging quantum properties such as superposition and entanglement, quantum methods enable more efficient parallel processing of high-dimensional data and offer faster and more effective solutions to problems that are computationally demanding for classical methods. In this study, a novel model called "Deep VQC" is proposed, based on the Variational Quantum Classifier approach. Developed using microarray data containing 54,676 gene features, the model successfully classified four different types of brain tumors-ependymoma, glioblastoma, medulloblastoma, and pilocytic astrocytoma-alongside healthy samples with high accuracy. Furthermore, compared to classical ML algorithms, our model demonstrated either superior or comparable classification performance. These results highlight the potential of quantum AI methods as an effective and promising approach for the analysis and classification of complex structures such as brain tumors based on gene expression features.

Synthetic lethality (SL) prediction is used to identify if the co-mutation of two genes results in cell death. The prevalent strategy is to abstract SL prediction as an edge classification task on gene nodes within SL data and achieve it through graph neural networks (GNNs). However, GNNs suffer from limitations in their message passing mechanisms, including over-smoothing and over-squashing issues. Moreover, harnessing the information of non-SL gene relationships within large-scale multi-omics data to facilitate SL prediction poses a non-trivial challenge. To tackle these issues, we propose a new multi-omics sampling-based graph transformer for SL prediction (MSGT-SL). Concretely, we introduce a shallow multi-view GNN to acquire local structural patterns from both SL and multi-omics data. Further, we input gene features that encode multi-view information into the standard self-attention to capture long-range dependencies. Notably, starting with batch genes from SL data, we adopt parallel random walk sampling across multiple omics gene graphs encompassing them. Such sampling effectively and modestly incorporates genes from omics in a structure-aware manner before using self-attention. We showcase the effectiveness of MSGT-SL on real-world SL tasks, demonstrating the empirical benefits gained from the graph transformer and multi-omics data.

This is a case study on the personalized cancer diagnosis problem. Before diving deep into the issue, let us understand what are the challenges with cancer diagnosis and how machine learning can help in mitigating them. Note: This problem is taken from NIPS 2017 Competition and the details can be found using this link. Let us go through the current process first. In order to identify if a person has cancer or not, a specialist first creates a list of genetic variations that needs to be analyzed. He/she then searches for all the relevant evidences like published journals etc.

Whenever a patient has symptoms of cancer, the cancer tumour is taken out and sequenced. Genetic information in the tumor cell is stored in the form of DNA. It is then transcribed to form RNA which is then translated to form proteins/amino acids. In case of a mutation, or a mistake in DNA sequence, the resultant amino acid is affected giving rise to a variation for the particular gene. Thousands of genetic mutations may be present in the sequence. We need to distinguish the malignant mutations (drivers leading to tumour growth) from the benign (passenger) ones.