Evidence map›Paper›PMID 41746939›Full record

ArticlePLoS medicine2026

Reimagining care of people living with rare diseases with artificial intelligence.

Tudor Groza, Gareth Baynam, Saumya Shekhar Jamuar

Abstract read
In one paragraph

Article in PLoS medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

3 authors.

Tudor GrozaBioinformatics Institute (BII), Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.ORCID https://orcid.org/0000-0003-2267-8333
Gareth BaynamRare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.ORCID https://orcid.org/0000-0003-4920-9553
Saumya Shekhar JamuarGenetics Service, KK Women's and Children's Hospital, Singapore, Singapore.ORCID https://orcid.org/0000-0003-2341-8349

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Artificial intelligence (AI) can transform rare disease care when organized around the patient journey. We outline a patient-clinician-AI triad spanning early detection, diagnosis, clinical trials, and individualized therapies.

Identifiers

PMID41746939
PMCPMC12944784

What Socratic holds

Textmetadata
LicenceCC BY
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.