ArticleEuropean journal of human genetics : EJHG2024
Analysis of large-language model versus human performance for genetics questions.
Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers.
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Who cites it
71 citing papers in PubMed.
- Consistency and accuracy of different artificial intelligence models in evaluating longitudinal cracks and fractures of teeth.Odontology · 2026Article
- Development of an Equity-Centered Sociotechnical Architecture for Generative AI Integration in Public Health Promotion: Conceptual Framework.Journal of medical Internet research · 2026Article
- AD-GPT: large language models in Alzheimer's disease.BMC medical informatics and decision making · 2026Article
- A Multiassessment and Multiprofessional Agents Approach for Medical Chatbot Risk Estimation: Development and Evaluation Study.JMIR medical informatics · 2026Article
- Evaluating large language model`s performance in answering principles of health course questions.Scientific reports · 2026Article
- Artificial intelligence in genomic medicine: dispelling three myths.NPJ genomic medicine · 2026Article
- Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026Review
- A Systematic Literature Review on Integrated Deep Learning and Multiagent Vision-Language Frameworks for Pathology Image Analysis and Report Generation.Computational and structural biotechnology journal · 2026Review
- Benchmarking five large language models in medical genetics: a bilingual comparative evaluation using published and novel expert-authored questions.Frontiers in medicine · 2026Article
- Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics.American journal of medical genetics. Part A · 2025Review
- Assessing the reliability of ChatGPT in cytogenetic reporting and interpretation: implications for clinical use.Molecular cytogenetics · 2025Article
- Endure or perish with use of artificial intelligence in clinical genetics settings.European journal of human genetics : EJHG · 2025Article
- Exploring the role of DeepSeek-R1, ChatGPT-4, and Google Gemini in medical education: How valid and reliable are they?Pakistan journal of medical sciences · 2025Article
- Large Language Models in Medical Diagnostics: Scoping Review With Bibliometric Analysis.Journal of medical Internet research · 2025Article
- FoodSky: A food-oriented large language model that can pass the chef and dietetic examinations.Patterns (New York, N.Y.) · 2025Article
- Article
- Exploring the Potential of ChatGPT for the Summarization of Patient Medical Histories: A Pilot Study.Cureus · 2025Article
- Evaluating search engines and large language models for answering health questions.NPJ digital medicine · 2025Article
- Evaluating the Use of Generative Artificial Intelligence to Support Genetic Counseling for Rare Diseases.Diagnostics (Basel, Switzerland) · 2025Article
- Artificial intelligence in clinical genetics.European journal of human genetics : EJHG · 2025Review
11 more citing papers are in PubMed but not listed here.
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Authors and funding
2 authors.
Funding
Abstract
Large-language models like ChatGPT have recently received a great deal of attention. One area of interest pertains to how these models could be used in biomedical contexts, including related to human genetics. To assess one facet of this, we compared the performance of ChatGPT versus human respondents (13,642 human responses) in answering 85 multiple-choice questions about aspects of human genetics. Overall, ChatGPT did not perform significantly differently (p = 0.8327) than human respondents; ChatGPT was 68.2% accurate, compared to 66.6% accuracy for human respondents. Both ChatGPT and humans performed better on memorization-type questions versus critical thinking questions (p < 0.0001). When asked the same question multiple times, ChatGPT frequently provided different answers (16% of initial responses), including for both initially correct and incorrect answers, and gave plausible explanations for both correct and incorrect answers. ChatGPT's performance was impressive, but currently demonstrates significant shortcomings for clinical or other high-stakes use. Addressing these limitations will be important to guide adoption in real-life situations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.