Background of the Study
The rapid advancements in genomic technologies have led to an exponential increase in genetic data, creating both opportunities and challenges in mutation prediction. Predicting genetic mutations accurately is critical for early diagnosis, personalized treatment, and improved prognostic outcomes. In recent years, artificial intelligence (AI) has emerged as a powerful tool in bioinformatics due to its ability to learn complex patterns from large datasets. At Bauchi State University, Gadau, researchers are developing an AI‐based platform designed specifically for predicting genetic mutations. This platform integrates state‐of‐the‐art deep learning algorithms with traditional genomic analysis techniques to enhance prediction accuracy and reduce computational time (Adebayo, 2023). The system employs convolutional neural networks (CNNs) and recurrent neural networks (RNNs) to analyze high‐dimensional genomic sequences, identify mutation patterns, and assign probability scores to potential mutations. In addition, the platform features an intuitive user interface, enabling clinicians and researchers to input raw sequence data and obtain actionable insights. The integration of cloud computing resources further supports the platform’s scalability, allowing it to process large volumes of genomic data in real time (Ibrahim, 2024). By automating mutation detection, the platform minimizes human error and accelerates the interpretation of complex genetic information. The interdisciplinary nature of the project—combining expertise from computer science, genomics, and clinical research—ensures that the system is both technically robust and clinically relevant. Furthermore, the platform incorporates feedback mechanisms and continuous learning modules, ensuring that prediction models are regularly updated as new genomic data become available. This dynamic approach addresses the evolving nature of genetic variations and enhances the system’s long-term reliability. Overall, the study aims to bridge the gap between high-throughput genomic sequencing and clinical applications, ultimately contributing to more effective genetic screening and personalized medicine strategies (Chukwu, 2024).
Statement of the Problem
Despite the availability of vast genomic datasets, accurately predicting genetic mutations remains a major challenge. Traditional computational methods are often labor-intensive, time-consuming, and unable to capture the intricate patterns present in genetic data. At Bauchi State University, Gadau, the absence of an integrated, AI‐driven platform for mutation prediction has resulted in fragmented analytical approaches and inconsistent outputs (Bello, 2023). Existing tools frequently struggle with high-dimensional data, leading to false positives and missed mutations. Moreover, the lack of standardization in mutation detection methods limits the reproducibility of results across different laboratories. These challenges are compounded by insufficient computational infrastructure and a scarcity of domain-specific expertise, which together hinder the translation of genomic data into clinically actionable insights. The current research environment necessitates a robust, scalable system that not only automates mutation prediction but also continuously improves through adaptive learning. This study aims to address these issues by designing and implementing an AI‐based platform that integrates deep learning with genomic analysis. Such a platform would standardize mutation prediction, improve detection accuracy, and reduce turnaround time, thereby enhancing clinical decision-making and patient care. The proposed system is expected to offer a unified framework for processing heterogeneous genomic datasets while delivering high-confidence predictions that can inform treatment strategies and preventive measures (Okeke, 2024).
Objectives of the Study
To design an AI‐based platform for predicting genetic mutations using deep learning algorithms.
To implement and validate the platform with real-world genomic datasets from Bauchi State University.
To assess the predictive accuracy and clinical applicability of the platform.
Research Questions
How can deep learning algorithms be optimized for predicting genetic mutations?
What improvements in accuracy and processing speed can the AI‐based platform achieve over traditional methods?
How can the platform be integrated into clinical workflows for routine mutation screening?
Significance of the Study
This study is significant as it introduces an innovative AI‐based platform for accurate prediction of genetic mutations. By leveraging deep learning and high-throughput computing, the platform is expected to enhance mutation detection, reduce diagnostic delays, and support personalized treatment strategies. The research offers a scalable model that can be adopted by other institutions, thereby contributing to the advancement of precision medicine and improved patient outcomes (Adebayo, 2023).
Scope and Limitations of the Study
The study is limited to the design, implementation, and evaluation of the AI‐based mutation prediction platform at Bauchi State University, Gadau. It focuses exclusively on genomic sequence data and does not extend to other omics data or clinical trial validations.
Definitions of Terms
Genetic Mutation: A permanent alteration in the DNA sequence that may affect gene function.
Deep Learning: A subset of machine learning involving neural networks with multiple layers that learn hierarchical representations.
Platform Implementation: The process of developing and deploying a software system for a specific application.
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