{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T15:52:59Z","timestamp":1778255579005,"version":"3.51.4"},"publisher-location":"New York, NY, USA","reference-count":62,"publisher":"ACM","license":[{"start":{"date-parts":[[2024,8,24]],"date-time":"2024-08-24T00:00:00Z","timestamp":1724457600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/https:\/\/doi.org\/10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFF1201303, 2022YFC2703103"],"award-info":[{"award-number":["2021YFF1201303, 2022YFC2703103"]}],"id":[{"id":"10.13039\/https:\/\/doi.org\/10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/https:\/\/doi.org\/10.13039\/100020721","name":"Guoqiang Institute, Tsinghua University","doi-asserted-by":"publisher","award":["2020GQG0003"],"award-info":[{"award-number":["2020GQG0003"]}],"id":[{"id":"10.13039\/https:\/\/doi.org\/10.13039\/100020721","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/https:\/\/doi.org\/10.13039\/501100017582","name":"Beijing National Research Center For Information Science And Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/https:\/\/doi.org\/10.13039\/501100017582","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["dl.acm.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,8,25]]},"DOI":"10.1145\/3637528.3671576","type":"proceedings-article","created":{"date-parts":[[2024,8,25]],"date-time":"2024-08-25T04:54:55Z","timestamp":1724561695000},"page":"4850-4861","update-policy":"https:\/\/doi.org\/10.1145\/crossmark-policy","source":"Crossref","is-referenced-by-count":28,"title":["RareBench: Can LLMs Serve as Rare Diseases Specialists?"],"prefix":"10.1145","author":[{"given":"Xuanzhong","family":"Chen","sequence":"first","affiliation":[{"name":"Tsinghua University, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaohao","family":"Mao","sequence":"additional","affiliation":[{"name":"Tsinghua University, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qihan","family":"Guo","sequence":"additional","affiliation":[{"name":"Tsinghua University, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lun","family":"Wang","sequence":"additional","affiliation":[{"name":"Chinese Academy of Medical Sciences &amp; Peking Union Medical College, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuyang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Chinese Academy of Medical Sciences &amp; Peking Union Medical College, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting","family":"Chen","sequence":"additional","affiliation":[{"name":"Tsinghua University, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"320","published-online":{"date-parts":[[2024,8,24]]},"reference":[{"key":"e_1_3_2_2_1_1","volume-title":"Diogo Almeida, Janko Altenschmidt, Sam Altman, Shyamal Anadkat, et al.","author":"Achiam Josh","year":"2023","unstructured":"Josh Achiam, Steven Adler, Sandhini Agarwal, Lama Ahmad, Ilge Akkaya, Florencia Leoni Aleman, Diogo Almeida, Janko Altenschmidt, Sam Altman, Shyamal Anadkat, et al. 2023. Gpt-4 technical report. arXiv preprint arXiv:2303.08774 (2023)."},{"key":"e_1_3_2_2_2_1","volume-title":"an information site on rare diseases. Soins","author":"Aym\u00e9 S\u00e9gol\u00e8ne","year":"2003","unstructured":"S\u00e9gol\u00e8ne Aym\u00e9. 2003. Orphanet, an information site on rare diseases. Soins; la revue de r\u00e9f\u00e9rence infirmi\u00e8re 672 (2003), 46--47."},{"key":"e_1_3_2_2_3_1","doi-asserted-by":"crossref","unstructured":"Yan Cai Linlin Wang Ye Wang Gerard de Melo Ya Zhang Yanfeng Wang and Liang He. 2023. MedBench: A Large-Scale Chinese Benchmark for Evaluating Medical Large Language Models. arXiv:2312.12806 [cs.CL]","DOI":"10.1609\/aaai.v38i16.29723"},{"key":"e_1_3_2_2_4_1","unstructured":"Junying Chen Xidong Wang Anningzhe Gao Feng Jiang Shunian Chen Hongbo Zhang Dingjie Song Wenya Xie Chuyi Kong Jianquan Li Xiang Wan Haizhou Li and Benyou Wang. 2023. HuatuoGPT-II One-stage Training for Medical Adaption of LLMs. arXiv:2311.09774 [cs.CL]"},{"key":"e_1_3_2_2_5_1","volume-title":"Elements of information theory","author":"Cover Thomas M","unstructured":"Thomas M Cover. 1999. Elements of information theory. John Wiley & Sons."},{"key":"e_1_3_2_2_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0381-1"},{"key":"e_1_3_2_2_7_1","doi-asserted-by":"publisher","DOI":"10.18653\/v1\/2022.acl-long.26"},{"key":"e_1_3_2_2_8_1","unstructured":"William RH Evans. 2023. Dare to think rare. Diagnostic delay and rare diseases. (2023)."},{"key":"e_1_3_2_2_9_1","first-page":"31306","article-title":"Ddxplus: A new dataset for automatic medical diagnosis","volume":"35","author":"Tchango Arsene Fansi","year":"2022","unstructured":"Arsene Fansi Tchango, Rishab Goel, Zhi Wen, Julien Martel, and Joumana Ghosn. 2022. Ddxplus: A new dataset for automatic medical diagnosis. Advances in Neural Information Processing Systems 35 (2022), 31306--31318.","journal-title":"Advances in Neural Information Processing Systems"},{"key":"e_1_3_2_2_10_1","doi-asserted-by":"publisher","DOI":"10.1109\/TCBB.2022.3170301"},{"key":"e_1_3_2_2_11_1","doi-asserted-by":"publisher","DOI":"10.1145\/2939672.2939754"},{"key":"e_1_3_2_2_12_1","doi-asserted-by":"crossref","unstructured":"Melissa Haendel Nicole Vasilevsky Deepak Unni Cristian Bologa Nomi Harris Heidi Rehm Ada Hamosh Gareth Baynam Tudor Groza Julie McMurry et al. 2020. How many rare diseases are there? Nature reviews drug discovery 19 2 (2020) 77--78.","DOI":"10.1038\/d41573-019-00180-y"},{"key":"e_1_3_2_2_13_1","volume-title":"Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic acids research 33, suppl_1","author":"Hamosh Ada","year":"2005","unstructured":"Ada Hamosh, Alan F Scott, Joanna S Amberger, Carol A Bocchini, and Victor A McKusick. 2005. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic acids research 33, suppl_1 (2005), D514--D517."},{"key":"e_1_3_2_2_14_1","volume-title":"MedAlpaca-An Open-Source Collection of Medical Conversational AI Models and Training Data. arXiv preprint arXiv:2304.08247","author":"Han Tianyu","year":"2023","unstructured":"Tianyu Han, Lisa C Adams, Jens-Michalis Papaioannou, Paul Grundmann, Tom Oberhauser, Alexander L\u00f6ser, Daniel Truhn, and Keno K Bressem. 2023. MedAlpaca-An Open-Source Collection of Medical Conversational AI Models and Training Data. arXiv preprint arXiv:2304.08247 (2023)."},{"key":"e_1_3_2_2_15_1","volume-title":"Incidence and prevalence of 121 rare diseases in China: Current status and challenges. Intractable & rare diseases research 8, 2","author":"He Jiangjiang","year":"2019","unstructured":"Jiangjiang He, Mi Tang, Xueyan Zhang, Duo Chen, Qi Kang, Yan Yang, Jiahao Hu, Chunlin Jin, and Peipei Song. 2019. Incidence and prevalence of 121 rare diseases in China: Current status and challenges. Intractable & rare diseases research 8, 2 (2019), 89--97."},{"key":"e_1_3_2_2_16_1","volume-title":"RDAD: a machine learning system to support phenotype-based rare disease diagnosis. Frontiers in genetics 9","author":"Jia Jinmeng","year":"2018","unstructured":"Jinmeng Jia, Ruiyuan Wang, Zhongxin An, Yongli Guo, Xi Ni, and Tieliu Shi. 2018. RDAD: a machine learning system to support phenotype-based rare disease diagnosis. Frontiers in genetics 9 (2018), 587."},{"key":"e_1_3_2_2_17_1","volume-title":"Diego de las Casas, Florian Bressand, Gianna Lengyel, Guillaume Lample, Lucile Saulnier, et al.","author":"Jiang Albert Q","year":"2023","unstructured":"Albert Q Jiang, Alexandre Sablayrolles, Arthur Mensch, Chris Bamford, Devendra Singh Chaplot, Diego de las Casas, Florian Bressand, Gianna Lengyel, Guillaume Lample, Lucile Saulnier, et al. 2023. Mistral 7B. arXiv preprint arXiv:2310.06825 (2023)."},{"key":"e_1_3_2_2_18_1","doi-asserted-by":"publisher","DOI":"10.3390\/app11146421"},{"key":"e_1_3_2_2_19_1","doi-asserted-by":"publisher","DOI":"10.18653\/v1\/D19-1259"},{"key":"e_1_3_2_2_20_1","doi-asserted-by":"crossref","unstructured":"Sebastian K\u00f6hler Michael Gargano Nicolas Matentzoglu Leigh C Carmody David Lewis-Smith Nicole A Vasilevsky Daniel Danis Ganna Balagura Gareth Baynam Amy M Brower et al. 2021. The human phenotype ontology in 2021. Nucleic acids research 49 D1 (2021) D1207--D1217.","DOI":"10.1093\/nar\/gkaa1043"},{"key":"e_1_3_2_2_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.003"},{"key":"e_1_3_2_2_22_1","doi-asserted-by":"crossref","unstructured":"Sebastian K\u00f6hler Nicole A Vasilevsky Mark Engelstad Erin Foster Julie McMurry S\u00e9gol\u00e8ne Aym\u00e9 Gareth Baynam Susan M Bello Cornelius F Boerkoel Kym M Boycott et al. 2017. The human phenotype ontology in 2017. Nucleic acids research 45 D1 (2017) D865--D876.","DOI":"10.1093\/nar\/gkw1039"},{"key":"e_1_3_2_2_23_1","volume-title":"Camille Elepa\u00f1o, Maria Madriaga, Rimel Aggabao, Giezel Diaz-Candido, James Maningo, et al.","author":"Kung Tiffany H","year":"2023","unstructured":"Tiffany H Kung, Morgan Cheatham, Arielle Medenilla, Czarina Sillos, Lorie De Leon, Camille Elepa\u00f1o, Maria Madriaga, Rimel Aggabao, Giezel Diaz-Candido, James Maningo, et al. 2023. Performance of ChatGPT on USMLE: Potential for AI-assisted medical education using large language models. PLoS digital health 2, 2 (2023), e0000198."},{"key":"e_1_3_2_2_24_1","volume-title":"Dongjin Kang, Seungjun Moon, Jeong Ryong Lee, Dosik Hwang, Yongsik Sim, Beomseok Sohn, Dongha Lee, and Jinyoung Yeo.","author":"Kwon Taeyoon","year":"2023","unstructured":"Taeyoon Kwon, Kai Tzu-iunn Ong, Dongjin Kang, Seungjun Moon, Jeong Ryong Lee, Dosik Hwang, Yongsik Sim, Beomseok Sohn, Dongha Lee, and Jinyoung Yeo. 2023. Large Language Models are Clinical Reasoners: Reasoning-Aware Diagnosis Framework with Prompt-Generated Rationales. arXiv preprint arXiv:2312.07399 (2023)."},{"key":"e_1_3_2_2_25_1","doi-asserted-by":"crossref","unstructured":"Yanis Labrak Adrien Bazoge Emmanuel Morin Pierre-Antoine Gourraud Mickael Rouvier and Richard Dufour. 2024. BioMistral: A Collection of Open-Source Pretrained Large Language Models for Medical Domains. arXiv:2402.10373 [cs.CL]","DOI":"10.18653\/v1\/2024.findings-acl.348"},{"key":"e_1_3_2_2_26_1","first-page":"9459","article-title":"Retrieval-augmented generation for knowledge-intensive nlp tasks","volume":"33","author":"Lewis Patrick","year":"2020","unstructured":"Patrick Lewis, Ethan Perez, Aleksandra Piktus, Fabio Petroni, Vladimir Karpukhin, Naman Goyal, Heinrich K\u00fcttler, Mike Lewis, Wen-tau Yih, Tim Rockt\u00e4schel, et al. 2020. Retrieval-augmented generation for knowledge-intensive nlp tasks. Advances in Neural Information Processing Systems 33 (2020), 9459--9474.","journal-title":"Advances in Neural Information Processing Systems"},{"key":"e_1_3_2_2_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2589-7500(23)00083-3"},{"key":"e_1_3_2_2_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0439-8"},{"key":"e_1_3_2_2_29_1","volume-title":"Ziran Li, Casey Ta, Kai Wang, and Chunhua Weng.","author":"Liu Cong","year":"2019","unstructured":"Cong Liu, Fabricio Sampaio Peres Kury, Ziran Li, Casey Ta, Kai Wang, and Chunhua Weng. 2019. Doc2Hpo: a web application for efficient and accurate HPO concept curation. Nucleic acids research 47, W1 (2019), W566--W570."},{"key":"e_1_3_2_2_30_1","unstructured":"Junling Liu Peilin Zhou Yining Hua Dading Chong Zhongyu Tian Andrew Liu Helin Wang Chenyu You Zhenhua Guo Lei Zhu et al. 2023. Benchmarking Large Language Models on CMExam--A Comprehensive Chinese Medical Exam Dataset. arXiv preprint arXiv:2306.03030 (2023)."},{"key":"e_1_3_2_2_31_1","doi-asserted-by":"publisher","DOI":"10.18653\/v1\/2023.emnlp-main.891"},{"key":"e_1_3_2_2_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btab019"},{"key":"e_1_3_2_2_33_1","volume-title":"A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome medicine 14, 1","author":"Marwaha Shruti","year":"2022","unstructured":"Shruti Marwaha, Joshua W Knowles, and Euan A Ashley. 2022. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome medicine 14, 1 (2022), 1--22."},{"key":"e_1_3_2_2_34_1","unstructured":"Daniel McDuff Mike Schaekermann Tao Tu Anil Palepu Amy Wang Jake Garrison Karan Singhal Yash Sharma Shekoofeh Azizi Kavita Kulkarni et al. 2023. Towards accurate differential diagnosis with large language models. arXiv preprint arXiv:2312.00164 (2023)."},{"key":"e_1_3_2_2_35_1","volume-title":"Distributed representations of words and phrases and their compositionality. Advances in neural information processing systems 26","author":"Mikolov Tomas","year":"2013","unstructured":"Tomas Mikolov, Ilya Sutskever, Kai Chen, Greg S Corrado, and Jeff Dean. 2013. Distributed representations of words and phrases and their compositionality. Advances in neural information processing systems 26 (2013)."},{"key":"e_1_3_2_2_36_1","volume-title":"Harlan M Krumholz, Jure Leskovec, Eric J Topol, and Pranav Rajpurkar.","author":"Moor Michael","year":"2023","unstructured":"Michael Moor, Oishi Banerjee, Zahra Shakeri Hossein Abad, Harlan M Krumholz, Jure Leskovec, Eric J Topol, and Pranav Rajpurkar. 2023. Foundation models for generalist medical artificial intelligence. Nature 616, 7956 (2023), 259--265."},{"key":"e_1_3_2_2_37_1","volume-title":"Dean Carignan, and Eric Horvitz.","author":"Nori Harsha","year":"2023","unstructured":"Harsha Nori, Nicholas King, Scott Mayer McKinney, Dean Carignan, and Eric Horvitz. 2023. Capabilities of gpt-4 on medical challenge problems. arXiv preprint arXiv:2303.13375 (2023)."},{"key":"e_1_3_2_2_38_1","volume-title":"Sheng Zhang, Dean Carignan, Richard Edgar, Nicolo Fusi, Nicholas King, Jonathan Larson, Yuanzhi Li, Weishung Liu, et al.","author":"Nori Harsha","year":"2023","unstructured":"Harsha Nori, Yin Tat Lee, Sheng Zhang, Dean Carignan, Richard Edgar, Nicolo Fusi, Nicholas King, Jonathan Larson, Yuanzhi Li, Weishung Liu, et al. 2023. Can generalist foundation models outcompete special-purpose tuning? case study in medicine. arXiv preprint arXiv:2311.16452 (2023)."},{"key":"e_1_3_2_2_39_1","unstructured":"OpenAI. 2022. Introducing ChatGPT. https:\/\/openai.com\/blog\/chatgpt"},{"key":"e_1_3_2_2_40_1","unstructured":"OpenAI. 2022. New and improved embedding model. https:\/\/openai.com\/blog\/ new-and-improved-embedding-model"},{"key":"e_1_3_2_2_41_1","volume-title":"Conference on Health, Inference, and Learning. PMLR, 248--260","author":"Pal Ankit","year":"2022","unstructured":"Ankit Pal, Logesh Kumar Umapathi, and Malaikannan Sankarasubbu. 2022. Medmcqa: A large-scale multi-subject multi-choice dataset for medical domain question answering. In Conference on Health, Inference, and Learning. PMLR, 248--260."},{"key":"e_1_3_2_2_42_1","doi-asserted-by":"publisher","DOI":"10.1109\/BIBM.2016.7822617"},{"key":"e_1_3_2_2_43_1","doi-asserted-by":"publisher","DOI":"10.1145\/2623330.2623732"},{"key":"e_1_3_2_2_44_1","doi-asserted-by":"publisher","DOI":"10.1109\/TII.2017.2686380"},{"key":"e_1_3_2_2_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.06.021"},{"key":"e_1_3_2_2_46_1","volume-title":"Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study. Orphanet journal of rare diseases 14","author":"Ronicke Simon","year":"2019","unstructured":"Simon Ronicke, Martin C Hirsch, Ewelina T\u00fcrk, Katharina Larionov, Daphne Tientcheu, and Annette D Wagner. 2019. Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study. Orphanet journal of rare diseases 14 (2019), 1--12."},{"key":"e_1_3_2_2_47_1","volume-title":"Nathan Scales, Ajay Tanwani, Heather Cole-Lewis, Stephen Pfohl, et al.","author":"Singhal Karan","year":"2023","unstructured":"Karan Singhal, Shekoofeh Azizi, Tao Tu, S Sara Mahdavi, Jason Wei, Hyung Won Chung, Nathan Scales, Ajay Tanwani, Heather Cole-Lewis, Stephen Pfohl, et al. 2023. Large language models encode clinical knowledge. Nature 620, 7972 (2023), 172--180."},{"key":"e_1_3_2_2_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.05.010"},{"key":"e_1_3_2_2_49_1","unstructured":"Gemini Team Rohan Anil Sebastian Borgeaud Yonghui Wu Jean-Baptiste Alayrac Jiahui Yu Radu Soricut Johan Schalkwyk Andrew M Dai Anja Hauth et al. 2023. Gemini: a family of highly capable multimodal models. arXiv preprint arXiv:2312.11805 (2023)."},{"key":"e_1_3_2_2_50_1","volume-title":"Kabilan Elangovan, Laura Gutierrez, Ting Fang Tan, and Daniel Shu Wei Ting.","author":"Thirunavukarasu Arun James","year":"2023","unstructured":"Arun James Thirunavukarasu, Darren Shu Jeng Ting, Kabilan Elangovan, Laura Gutierrez, Ting Fang Tan, and Daniel Shu Wei Ting. 2023. Large language models in medicine. Nature medicine 29, 8 (2023), 1930--1940."},{"key":"e_1_3_2_2_51_1","volume-title":"RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases. Human mutation 31, 1","author":"T\u00f6pel Thoralf","year":"2010","unstructured":"Thoralf T\u00f6pel, Dagmar Scheible, Friedrich Trefz, and Ralf Hofest\u00e4dt. 2010. RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases. Human mutation 31, 1 (2010), E1081--E1088."},{"key":"e_1_3_2_2_52_1","unstructured":"Hugo Touvron Louis Martin Kevin Stone Peter Albert Amjad Almahairi Yasmine Babaei Nikolay Bashlykov Soumya Batra Prajjwal Bhargava Shruti Bhosale et al. 2023. Llama 2: Open foundation and fine-tuned chat models. arXiv preprint arXiv:2307.09288 (2023)."},{"key":"e_1_3_2_2_53_1","unstructured":"Tao Tu Anil Palepu Mike Schaekermann Khaled Saab Jan Freyberg Ryutaro Tanno Amy Wang Brenna Li Mohamed Amin Nenad Tomasev et al. 2024. Towards Conversational Diagnostic AI. arXiv preprint arXiv:2401.05654 (2024)."},{"key":"e_1_3_2_2_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2589-7500(23)00202-9"},{"key":"e_1_3_2_2_55_1","volume-title":"Chatcad: Interactive computer-aided diagnosis on medical image using large language models. arXiv preprint arXiv:2302.07257","author":"Wang Sheng","year":"2023","unstructured":"Sheng Wang, Zihao Zhao, Xi Ouyang, Qian Wang, and Dinggang Shen. 2023. Chatcad: Interactive computer-aided diagnosis on medical image using large language models. arXiv preprint arXiv:2302.07257 (2023)."},{"key":"e_1_3_2_2_56_1","first-page":"24824","article-title":"Chain-of-thought prompting elicits reasoning in large language models","volume":"35","author":"Wei Jason","year":"2022","unstructured":"Jason Wei, Xuezhi Wang, Dale Schuurmans, Maarten Bosma, Fei Xia, Ed Chi, Quoc V Le, Denny Zhou, et al. 2022. Chain-of-thought prompting elicits reasoning in large language models. Advances in Neural Information Processing Systems 35 (2022), 24824--24837.","journal-title":"Advances in Neural Information Processing Systems"},{"key":"e_1_3_2_2_57_1","volume-title":"Enhancing phenotype recognition in clinical notes using large language models: PhenoBCBERT and PhenoGPT. Patterns","author":"Yang Jingye","year":"2023","unstructured":"Jingye Yang, Cong Liu, Wendy Deng, Da Wu, Chunhua Weng, Yunyun Zhou, and Kai Wang. 2023. Enhancing phenotype recognition in clinical notes using large language models: PhenoBCBERT and PhenoGPT. Patterns (2023)."},{"key":"e_1_3_2_2_58_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41746-022-00742-2"},{"key":"e_1_3_2_2_59_1","unstructured":"Aohan Zeng Xiao Liu Zhengxiao Du Zihan Wang Hanyu Lai Ming Ding Zhuoyi Yang Yifan Xu Wendi Zheng Xiao Xia et al. 2022. Glm-130b: An open bilingual pre-trained model. arXiv preprint arXiv:2210.02414 (2022)."},{"key":"e_1_3_2_2_60_1","volume-title":"Phen2Disease: a phenotype-driven model for disease and gene prioritization by bidirectional maximum matching semantic similarities. Briefings in Bioinformatics","author":"Zhai Weiqi","year":"2023","unstructured":"Weiqi Zhai, Xiaodi Huang, Nan Shen, and Shanfeng Zhu. 2023. Phen2Disease: a phenotype-driven model for disease and gene prioritization by bidirectional maximum matching semantic similarities. Briefings in Bioinformatics (2023), bbad172."},{"key":"e_1_3_2_2_61_1","volume-title":"Automatic chain of thought prompting in large language models. arXiv preprint arXiv:2210.03493","author":"Zhang Zhuosheng","year":"2022","unstructured":"Zhuosheng Zhang, Aston Zhang, Mu Li, and Alex Smola. 2022. Automatic chain of thought prompting in large language models. arXiv preprint arXiv:2210.03493 (2022)."},{"key":"e_1_3_2_2_62_1","doi-asserted-by":"crossref","unstructured":"Mengge Zhao James M Havrilla Li Fang Ying Chen Jacqueline Peng Cong Liu Chao Wu Mahdi Sarmady Pablo Botas Juli\u00e1n Isla et al. 2020. Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases. NAR genomics and Bioinformatics 2 2 (2020) lqaa032.","DOI":"10.1093\/nargab\/lqaa032"}],"event":{"name":"KDD '24: The 30th ACM SIGKDD Conference on Knowledge Discovery and Data Mining","location":"Barcelona Spain","acronym":"KDD '24","sponsor":["SIGMOD ACM Special Interest Group on Management of Data","SIGKDD ACM Special Interest Group on Knowledge Discovery in Data"]},"container-title":["Proceedings of the 30th ACM SIGKDD Conference on Knowledge Discovery and Data Mining"],"original-title":[],"link":[{"URL":"https:\/\/dl.acm.org\/doi\/10.1145\/3637528.3671576","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/dl.acm.org\/doi\/pdf\/10.1145\/3637528.3671576","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T00:04:19Z","timestamp":1750291459000},"score":1,"resource":{"primary":{"URL":"https:\/\/dl.acm.org\/doi\/10.1145\/3637528.3671576"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,24]]},"references-count":62,"alternative-id":["10.1145\/3637528.3671576","10.1145\/3637528"],"URL":"https:\/\/doi.org\/10.1145\/3637528.3671576","relation":{},"subject":[],"published":{"date-parts":[[2024,8,24]]},"assertion":[{"value":"2024-08-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}