BACKGROUND: Biobanks are essential for intelligent medicine but face fragmentation and heterogeneity. No standardized framework exists for assessing biobank data value using public information; this study addresses this gap. MATERIALS AND METHODS: We systematically evaluated 94 global biobanks (2010-2024) through a literature review and structured data extraction. Based on 12 international standards, we developed the 5-dimensional SHARE principle (Standardization, Hierarchical structuring, Analytical compatibility, Regulatory compliance, Evolutionary adaptability), operationalized into 10 indicators with a 4-tier scoring system. GPT-4o provided AI-supported prescoring, which was validated by 10 experts and through case studies, including RARPKB. RESULTS: The SHARE principle and a classification map of 94 biobanks were generated. AI and expert scoring showed substantial consistency (κ = 0.62; 95% CI, 0.54-0.70). Biobanks were categorized into 4 tiers: Traditional (60-69), Data-Driven (70-79), Knowledge-Guided (80-89), and Generative and Reasoning-oriented Biobank (90-100). Case validation confirmed utility for disease-specific biobanks. DISCUSSION: We highlight the principal findings, critically examine the reliance on public documentation, propose mitigation strategies, and discuss indicator weighting and implications for translational informatics. CONCLUSIONS: The SHARE principle provides a scalable, standardized method for assessing biobank data value, supporting biobank development, resource discovery, and the development of AI-driven biomedical ecosystems for intelligent medicine.

Whether viewed as an expert or as a source of ‘knowledge hallucination’, the use of ChatGPT in medical practice has stirred ongoing debate. This study sought to evaluate ChatGPT's capabilities in the field of clinical genetics, focusing on tasks such as ‘Clinical genetics exams’, ‘Associations between genetic diseases and pathogenic genes’, and ‘Limitations and trends in clinical genetics’. Results indicated that ChatGPT performed exceptionally well in question-answering tasks, particularly in clinical genetics exams and diagnosing single-gene diseases. It also effectively outlined the current limitations and prospective trends in clinical genetics. However, ChatGPT struggled to provide comprehensive answers regarding multi-gene or epigenetic diseases, particularly with respect to genetic variations or chromosomal abnormalities. In terms of systematic summarization and inference, some randomness was evident in ChatGPT's responses. In summary, while ChatGPT possesses a foundational understanding of general knowledge in clinical genetics due to hyperparameter learning, it encounters significant challenges when delving into specialized knowledge and navigating the complexities of clinical genetics, particularly in mitigating ‘Knowledge Hallucination’. To optimize its performance and depth of expertise in clinical genetics, integration with specialized knowledge databases and knowledge graphs is imperative.

Disease ontologies facilitate the semantic organization and representation of domain-specific knowledge. In the case of prostate cancer (PCa), large volumes of research results and clinical data have been accumulated and needed to be standardized for sharing and translational researches. A formal representation of PCa-associated knowledge will be essential to the diverse data standardization, data sharing and the future knowledge graph extraction, deep phenotyping and explainable artificial intelligence developing. In this study, we constructed an updated PCa ontology (PCAO2) based on the ontology development life cycle. An online information retrieval system was designed to ensure the usability of the ontology. The PCAO2 with a subclass-based taxonomic hierarchy covers the major biomedical concepts for PCa-associated genotypic, phenotypic and lifestyle data. The current version of the PCAO2 contains 633 concepts organized under three biomedical viewpoints, namely, epidemiology, diagnosis and treatment. These concepts are enriched by the addition of definition, synonym, relationship and reference. For the precision diagnosis and treatment, the PCa-associated genes and lifestyles are integrated in the viewpoint of epidemiological aspects of PCa. PCAO2 provides a standardized and systematized semantic framework for studying large amounts of heterogeneous PCa data and knowledge, which can be further, edited and enriched by the scientific community. The PCAO2 is freely available at https://bioportal.bioontology.org/ontologies/PCAO, http://pcaontology.net/ and http://pcaontology.net/mobile/.

MOTIVATION: Heart failure (HF) is a cardiovascular disease with a high incidence around the world. Accumulating studies have focused on the identification of biomarkers for HF precision medicine. To understand the HF heterogeneity and provide biomarker information for the personalized diagnosis and treatment of HF, a knowledge database collecting the distributed and multiple-level biomarker information is necessary. RESULTS: In this study, the HF biomarker knowledge database (HFBD) was established by manually collecting the data and knowledge from literature in PubMed. HFBD contains 2618 records and 868 HF biomarkers (731 single and 137 combined) extracted from 1237 original articles. The biomarkers were classified into proteins, RNAs, DNAs and the others at molecular, image, cellular and physiological levels. The biomarkers were annotated with biological, clinical and article information as well as the experimental methods used for the biomarker discovery. With its user-friendly interface, this knowledge database provides a unique resource for the systematic understanding of HF heterogeneity and personalized diagnosis and treatment of HF in the era of precision medicine. AVAILABILITY AND IMPLEMENTATION: The platform is openly available at http://sysbio.org.cn/HFBD/.