Zixin Shu

Xinyan Wang, Ting Jia, Chongyu Wang et al. · tsinghua

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.

Rui Hua, Yu Wei, Zixin Shu et al.

Large language models (LLMs) are advancing rapidly in medical NLP, yet Traditional Chinese Medicine (TCM) with its distinctive ontology, terminology, and reasoning patterns requires domain-faithful evaluation. Existing TCM benchmarks are fragmented in coverage and scale and rely on non-unified or generation-heavy scoring that hinders fair comparison. We present the LingLanMiDian (LingLan) benchmark, a large-scale, expert-curated, multi-task suite that unifies evaluation across knowledge recall, multi-hop reasoning, information extraction, and real-world clinical decision-making. LingLan introduces a consistent metric design, a synonym-tolerant protocol for clinical labels, a per-dataset 400-item Hard subset, and a reframing of diagnosis and treatment recommendation into single-choice decision recognition. We conduct comprehensive, zero-shot evaluations on 14 leading open-source and proprietary LLMs, providing a unified perspective on their strengths and limitations in TCM commonsense knowledge understanding, reasoning, and clinical decision support; critically, the evaluation on Hard subset reveals a substantial gap between current models and human experts in TCM-specialized reasoning. By bridging fundamental knowledge and applied reasoning through standardized evaluation, LingLan establishes a unified, quantitative, and extensible foundation for advancing TCM LLMs and domain-specific medical AI research. All evaluation data and code are available at https://github.com/TCMAI-BJTU/LingLan and http://tcmnlp.com.

Zixin Shu, Rui Hua, Dengying Yan et al.

Symptom phenotypes are one of the key types of manifestations for diagnosis and treatment of various disease conditions. However, the diversity of symptom terminologies is one of the major obstacles hindering the analysis and knowledge sharing of various types of symptom-related medical data particularly in the fields of Traditional Chinese Medicine (TCM). Objective: This study aimed to construct an Integrated Ontology of symptom phenotypes (ISPO) to support the data mining of Chinese EMRs and real-world study in TCM field. Methods: To construct an integrated ontology of symptom phenotypes (ISPO), we manually annotated classical TCM textbooks and large-scale Chinese electronic medical records (EMRs) to collect symptom terms with support from a medical text annotation system. Furthermore, to facilitate the semantic interoperability between different terminologies, we incorporated public available biomedical vocabularies by manual mapping between Chinese terms and English terms with cross-references to source vocabularies. In addition, we evaluated the ISPO using independent clinical EMRs to provide a high-usable medical ontology for clinical data analysis. Results: By integrating 78,696 inpatient cases of EMRs, 5 biomedical vocabularies, 21 TCM books and dictionaries, ISPO provides 3,147 concepts, 23,475 terms, and 55,552 definition or contextual texts. Adhering to the taxonomical structure of the related anatomical systems of symptom phenotypes, ISPO provides 12 top-level categories and 79 middle-level sub-categories. The validation of data analysis showed the ISPO has a coverage rate of 95.35%, 98.53% and 92.66% for symptom terms with occurrence rates of 0.5% in additional three independent curated clinical datasets, which can demonstrate the significant value of ISPO in mapping clinical terms to ontologies.

Haozhe Luo, Ziyu Zhou, Zixin Shu et al.

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.