Gen Li
Publications
Evidence-Grounded AI for Musculoskeletal Care
Musculoskeletal diseases are among the leading causes of disability worldwide and create the greatest global need for rehabilitation. Because recovery, remodelling and degeneration often unfold over months to years, musculoskeletal care requires longitudinal management that repeatedly integrates evolving patient evidence, external medical knowledge and stage-specific functional goals. In routine practice, this evidence is fragmented across visits, departments and hospital systems, limiting individualized, evidence-based care. Here we report OrthoPilot, a clinical artificial intelligence system powered by a large language model that integrates hospital data streams with authoritative external knowledge for continuous musculoskeletal management. OrthoPilot autonomously retrieves real-time imaging, laboratory, pathology and order data and converts evolving patient states into evidence-based decisions from admission diagnosis to rehabilitation planning. We established a specialist-validated benchmark from real-world electronic health records spanning 1,000 disease codes. In a reader study across the complete care pathway, OrthoPilot was compared with 81 orthopaedic physicians and surpassed experts with 25 years of experience in diagnostic reasoning, clinical decision-making and management planning. It also outperformed all evaluated intelligent systems across 60 external clinical centres. In a prospective study of 1,870 complex cases, OrthoPilot increased full-chain management success by 10.6%. During an 8-month randomised deployment involving 8,240 inpatients, it increased cumulative cases per bed by 9.7% and improved patient-reported access to health information. These results move clinical AI from predicting isolated events toward executing longitudinal management across complete musculoskeletal care pathways.
DeepBD: A Grounded Agentic Workflow for Variant Prioritization and Diagnosis of Genetic Birth Defects
Birth defects are a major cause of fetal loss, neonatal morbidity and long-term disability. In the subset with suspected genetic etiologies, exome and genome sequencing have moved many cases from variant detection to post-sequencing interpretation: clinicians must rank patient-specific candidate variants under incomplete fetal or infant phenotypes and heterogeneous evidence from population genetics, variant-effect prediction, gene-disease validity, phenotype ontologies, cellular and pathway context, protein structure and clinical literature. We present DeepBD, a grounded agentic workflow for variant prioritization and diagnostic interpretation of genetic birth defects. DeepBD organizes the workflow into LLM-assisted case structuring, a pretrained evidence engine, specialist evidence modules and a grounded diagnostic review layer. The evidence engine learns patient-specific variant scores from structured rule evidence, sequence and variant-effect representations and phenotype-conditioned biological context, whereas specialist modules and the agentic layer provide tool-based refinement, candidate-pool review and diagnosis-oriented synthesis from ranked candidates. Developed using an in-house fetal and infant cohort comprising 18,622 cases, DeepBD achieved Recall@1/3/5/10 of 0.658/0.882/0.912/0.929 on an internal held-out solved-case benchmark, outperforming standalone Exomiser, DeepRare and prompted LLM reranking baselines evaluated on Exomiser-derived top-20 candidate variants. Ablation and overlap analyses show that rule evidence, mechanistic context, and specialist refinement provide complementary signals. These findings support a grounded agentic workflow that separates evidence integration, tool-based refinement, and LLM-assisted diagnostic review for retrospective variant prioritization in genetic birth defects.
C-MIG: Multi-view Information Gain-based Retrieval-Augmented Generation for Clinical Diagnosis Reasoning
Retrieval-augmented generation combined with reinforcement learning has shown promise for grounding large language models in trustworthy medical evidence. However, existing methods rely on exact-match binary rewards, which in clinical diagnosis cause two issues: (i) semantically relevant but non-verbatim steps receive zero signal, discarding valuable learning signals; and (ii) uni-dimensional rewards cannot effectively supervise heterogeneous reasoning capabilities. To address these issues, we propose C-MIG, a Multi-view Information Gain-based retrieval-augmented generation framework for Clinical diagnosis. C-MIG estimates information gain under a frozen reference model from two complementary views, retrieved-document and document-refinement, to jointly guide what to retrieve and how to refine, alleviating the issues of valuable reward signal loss and credit assignment. We further design a multi-subquery retrieval augmentation strategy that improves knowledge recall coverage in clinical diagnostic scenarios. Comprehensive experiments on four medical benchmarks demonstrate that C-MIG achieves the best performance among all RAG-RL methods on both in-domain and out-of-domain sets, and outperforms state-of-the-art general-purpose LLMs for clinical diagnosis.
EAPO: Entropy-Driven Adaptive Positive-Negative Sample Weighting for Policy Optimization in Open-Ended QA
Large Reasoning Models are typically trained via reinforcement learning from verifiable rewards (RLVR). However, existing approaches adopt fixed weights for positive and negative samples, and the conclusions hardly generalize to open-ended question answering (QA). In this paper, we systematically investigate the roles of positive and negative samples in reinforcement learning for open-ended QA. We propose a reward-mean-based strategy for distinguishing positive from negative samples, and observe that negative samples predominantly govern response diversity and the performance upper bound, whereas positive samples primarily determine response quality and convergence stability. Building on these observations, we propose EAPO, an Entropy-driven Adaptive Policy Optimization method that adaptively computes the weighting coefficients of positive samples based on the ratio of the current policy entropy to the initial entropy. During the entropy-decreasing phase, the weight assigned to positive samples is reduced to preserve exploration, whereas during the entropy-increasing phase it is amplified to reinforce stability, thereby mitigating entropy collapse. Experiments on two publicly available open-ended medical QA datasets demonstrate that EAPO consistently and substantially outperforms fixed-weight baselines in both response diversity and stability.