A Survey on Explainable Deep Learning Architectures for Genomic Medicine: Towards Trustworthy AI in Biomedical Informatics
编号:52
访问权限:仅限参会人
更新:2026-11-10 16:32:14 浏览:9次
Online
摘要
Deep learning models (DL) can capture complex biological signals in high-dimensional omics fields and Convolutional Neural Networks (CNN), Recurrent Neural Networks (RNN) or even transformers deliver strong performance interpreting e.g., transcription-factor binding, chromatin accessibility, gene expression modelling and variants. At the same time, interpretability represents a restricting factor in their uptake within clinical practice, because we can barely grasp their inner mechanisms. This review attempts to explain XAI methods such as SHAP, DeepLIFt, Layer-wise Relevance Propagation (LRP), Integrated Gradients, attention methods, saliency or even domain aware designs, to explore interpretability for genomic medicine. The methodology starts with screening studies conducted between 2015 and 2025 and 20 are left over of 312 available. A systematization framework is then proposed, which connects data prep, deep model design, explanation, biological validation of XAI and clinical experiment, followed by quantitative evaluation. On average, the authors report an AUC of 0.94 with explainability deep models and some interpretability scores as high as 85%, which is in align with known JASPAR motifs. When combining transformers, SHAP and biological validation, transparency and discovery potential may be boosted while preserving prediction performance. The greatest limitations include lack of biological alignment, no standard interpretability metrics, no experimental cross validation, computational burden and integrating into a clinical workflow at large. In search for more accurate genomic medicine using XAI, solutions could therefore consist of biological-inspired XAI methods, benchmark datasets, wet-lab validation and clinical applications for their use and reports.
关键词
Explainable artificial intelligence, deep learning, genomic medicine, interpretability, SHAP, DeepLIFT, Layer-wise Relevance Propagation, Integrated Gradients, attention mechanisms, biological validation, precision medicine.
稿件作者
Y Prasada Reddy
Jawaharlal Nehru Technological University Anantapuramu
Dr V Venkata Ramana
Sri Sai Institute of Technology and Science (A); Rayachoty
发表评论