Evidence map›Paper›PMID 40984701›Full record

ArticleBriefings in bioinformatics2025

Benchmarking large language models for genomic knowledge with GeneTuring.

Xinyi Shang, Xu Liao, Zhicheng Ji, Wenpin Hou

Abstract read
In one paragraph

Article in Briefings in bioinformatics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing 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

15 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Med.ai ASK: an agentic system for biomedical question answering.Journal of the American Medical Informatics Association : JAMIA · 2026
    Article
  5. Article
  6. Lense: Optimizing data preprocessing in single-cell omics using LLMs.bioRxiv : the preprint server for biology · 2026
    Article
  7. Article
  8. Review
  9. Article
  10. Review
  11. Prompt injection of OpenAI custom GPTs leaks informatics secrets.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2026
    Article
  12. Article
  13. Recent advances in antibody optimization based on deep learning methods.Journal of Zhejiang University. Science. B · 2025
    Review
  14. Article
  15. Knowledge-Driven Feature Selection and Engineering for Genotype Data with Large Language Models.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Xinyi ShangDepartment of Biostatistics, Mailman School of Public Health, Columbia University, 722 West 168th Street, New York, NY 10032, United States.
Xu LiaoDepartment of Biostatistics, Mailman School of Public Health, Columbia University, 722 West 168th Street, New York, NY 10032, United States.
Zhicheng JiDepartment of Biostatistics and Bioinformatics, Duke University School of Medicine, 2424 Erwin Road, Durham, NC 27705, United States.
Wenpin HouDepartment of Biostatistics, Mailman School of Public Health, Columbia University, 722 West 168th Street, New York, NY 10032, United States.

Funding

Methods for inferring and analyzing gene regulatory networks using single-cell multiomics and spatial genomics dataR35GM150887 · NIGMS · DUKE UNIVERSITY · PI Wenpin Hou · 2023 to 2026
$1.6M
Computational methods for in situ spatial transcriptomicsR35GM154865 · NIGMS · DUKE UNIVERSITY · PI Zhicheng Ji · 2024 to 2026
$1.2M
NIGMS NIH HHS R35 GM150887NIGMS NIH HHS R35GM150887NIGMS NIH HHS R35 GM154865NIH HHS R35GM154865
6 · The paper itself

Abstract

Large language models (LLMs) show promise in biomedical research, but their effectiveness for genomic inquiry remains unclear. We developed GeneTuring, a benchmark consisting of 16 genomics tasks with 1600 curated questions, and manually evaluated 48 000 answers from 10 LLM configurations, including GPT-4o (via API, ChatGPT with web access, and a custom Generative Pretrained Transformer (GPT) setup), GPT-3.5, Claude 3.5, Gemini Advanced, GeneGPT (both slim and full), BioGPT, and BioMedLM. A custom GPT-4o configuration integrated with National Center for Biotechnology Information (NCBI) Application Programming Interfaces (APIs), developed in this study as SeqSnap, achieved the best overall performance. GPT-4o with web access and GeneGPT demonstrated complementary strengths. Our findings highlight both the promise and current limitations of LLMs in genomics, and emphasize the value of combining LLMs with domain-specific tools for robust genomic intelligence. GeneTuring offers a key resource for benchmarking and improving LLMs in biomedical research.

Indexed as

BenchmarkingComputational BiologyGenomicsProgramming LanguagesSoftwareHumansLarge Language Modelsbenchmarkgenomicsknowledge baselarge language model

Identifiers

PMID40984701
PMCPMC12454257

What OpenQuestion holds

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LicenceCC BY-NC
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 OpenQuestion graph.