Abstract:Deep neural networks excel in medical imaging but remain prone to biases, leading to fairness gaps across demographic groups. We provide the first systematic exploration of Human-AI alignment and fairness in this domain. Our results show that incorporating human insights consistently reduces fairness gaps and enhances out-of-domain generalization, though excessive alignment can introduce performance trade-offs, emphasizing the need for calibrated strategies. These findings highlight Human-AI alignment as a promising approach for developing fair, robust, and generalizable medical AI systems, striking a balance between expert guidance and automated efficiency. Our code is available at https://github.com/Roypic/Aligner.
Abstract:Accurate identification of disease genes has consistently been one of the keys to decoding a disease's molecular mechanism. Most current approaches focus on constructing biological networks and utilizing machine learning, especially, deep learning to identify disease genes, but ignore the complex relations between entities in the biological knowledge graph. In this paper, we construct a biological knowledge graph centered on diseases and genes, and develop an end-to-end Knowledge graph completion model for Disease Gene Prediction using interactional tensor decomposition (called KDGene). KDGene introduces an interaction module between the embeddings of entities and relations to tensor decomposition, which can effectively enhance the information interaction in biological knowledge. Experimental results show that KDGene significantly outperforms state-of-the-art algorithms. Furthermore, the comprehensive biological analysis of the case of diabetes mellitus confirms KDGene's ability for identifying new and accurate candidate genes. This work proposes a scalable knowledge graph completion framework to identify disease candidate genes, from which the results are promising to provide valuable references for further wet experiments.