Evidence map›Paper›PMID 41708847›Full record

ArticleNature2026

An agentic system for rare disease diagnosis with traceable reasoning.

Weike Zhao, Chaoyi Wu, Yanjie Fan, Pengcheng Qiu, Xiaoman Zhang, Yuze Sun, Xiao Zhou, Shuju Zhang, Yu Peng, Yanfeng Wang and 5 more

Abstract read
In one paragraph

Article in Nature, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

22 citing papers in PubMed.

  1. Article
  2. Artificial intelligence in clinical genetics: Current practice and attitudes among the clinical genetics workforce.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
    Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. A comprehensive survey of AI agents in healthcare.Journal of biomedical informatics · 2026
    Review
  8. Review
  9. Review
  10. Article
  11. Review
  12. Review
  13. Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. GEN-KnowRD: Reframing AI for Rare Disease Recognition.medRxiv : the preprint server for health sciences · 2026
    Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Weike Zhao *School of Artificial Intelligence, Shanghai Jiao Tong University, Shanghai, China.ORCID 0009-0001-2954-1797
Chaoyi Wu *School of Artificial Intelligence, Shanghai Jiao Tong University, Shanghai, China.
Yanjie Fan *Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Pengcheng QiuSchool of Artificial Intelligence, Shanghai Jiao Tong University, Shanghai, China.
Xiaoman ZhangDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-7696-9366
Yuze SunSchool of Artificial Intelligence, Shanghai Jiao Tong University, Shanghai, China.
Xiao ZhouShanghai Artificial Intelligence Laboratory, Shanghai, China.ORCID 0000-0001-5121-5640
Shuju ZhangThe Affiliated Children's Hospital of Xiangya School of Medicine, Hunan, Changsha, China.
Yu PengThe Affiliated Children's Hospital of Xiangya School of Medicine, Hunan, Changsha, China.
Yanfeng WangSchool of Artificial Intelligence, Shanghai Jiao Tong University, Shanghai, China.ORCID 0000-0002-3196-2347
Xin SunXinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Ya ZhangSchool of Artificial Intelligence, Shanghai Jiao Tong University, Shanghai, China. ya_zhang@sjtu.edu.cn.ORCID 0000-0002-5390-9053
Yongguo YuXinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China. yuyongguo@shsmu.edu.cn.ORCID 0000-0002-4472-0910
Kun SunXinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China. sunkun@xinhuamed.com.cn.ORCID 0000-0002-0504-7372
Weidi XieSchool of Artificial Intelligence, Shanghai Jiao Tong University, Shanghai, China. weidi@sjtu.edu.cn.ORCID 0009-0002-8609-6826

Funding

Innovation Programme of the Shanghai Municipal Health CommissionNational Key R&D Programme of ChinaNatural Science Foundation of ChinaShanghai Municipal Commission of Economy and Informatization
6 · The paper itself

Abstract

Rare diseases affect more than 300 million people worldwide

Indexed as

Rare DiseasesDiagnosis, DifferentialHumansPhenotype

Identifiers

PMID41708847
PMCPMC12999473

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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 Socratic graph.