Evidence map›Paper›PMID 39222060›Full record

ArticleBriefings in bioinformatics2024

Large language model produces high accurate diagnosis of cancer from end-motif profiles of cell-free DNA.

Jilei Liu, Hongru Shen, Kexin Chen, Xiangchun Li

Abstract read
In one paragraph

Article in Briefings in bioinformatics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
–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

11 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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  8. Observational
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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

4 authors.

Jilei LiuKey Laboratory of Cancer Prevention and Therapy, Tianjin Cancer Institute, Tianjin's Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin Medical University, Tianjin, 300060, China.
Hongru ShenKey Laboratory of Cancer Prevention and Therapy, Tianjin Cancer Institute, Tianjin's Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin Medical University, Tianjin, 300060, China.
Kexin ChenDepartment of Epidemiology and Biostatistics, Key Laboratory of Molecular Cancer Epidemiology of Tianjin, Key Laboratory of Cancer Prevention and Therapy, Tianjin's Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin Medical University, Tianjin, 300060, China.
Xiangchun LiKey Laboratory of Cancer Prevention and Therapy, Tianjin Cancer Institute, Tianjin's Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin Medical University, Tianjin, 300060, China.ORCID 0000-0002-2230-2152

Funding

National Key Research and Development Program of China 2021YFC2500400National Natural Science Foundation of China 32270688Program for Changjiang Scholars and Innovative Research Team in University in China IRT_14R40Tianjin Key Medical Discipline TJYXZDXK-009A
6 · The paper itself

Abstract

Instruction-tuned large language models (LLMs) demonstrate exceptional ability to align with human intentions. We present an LLM-based model-instruction-tuned LLM for assessment of cancer (iLLMAC)-that can detect cancer using cell-free deoxyribonucleic acid (cfDNA) end-motif profiles. Developed on plasma cfDNA sequencing data from 1135 cancer patients and 1106 controls across three datasets, iLLMAC achieved area under the receiver operating curve (AUROC) of 0.866 [95% confidence interval (CI), 0.773-0.959] for cancer diagnosis and 0.924 (95% CI, 0.841-1.0) for hepatocellular carcinoma (HCC) detection using 16 end-motifs. Performance increased with more motifs, reaching 0.886 (95% CI, 0.794-0.977) and 0.956 (95% CI, 0.89-1.0) for cancer diagnosis and HCC detection, respectively, with 64 end-motifs. On an external-testing set, iLLMAC achieved AUROC of 0.912 (95% CI, 0.849-0.976) for cancer diagnosis and 0.938 (95% CI, 0.885-0.992) for HCC detection with 64 end-motifs, significantly outperforming benchmarked methods. Furthermore, iLLMAC achieved high classification performance on datasets with bisulfite and 5-hydroxymethylcytosine sequencing. Our study highlights the effectiveness of LLM-based instruction-tuning for cfDNA-based cancer detection.

Indexed as

Carcinoma, HepatocellularCell-Free Nucleic AcidsBiomarkers, TumorDNA MethylationHumansLiver NeoplasmsNeoplasmsNucleotide MotifsROC CurveBiomarkers, TumorCell-Free Nucleic Acidscell-free DNAearly cancer diagnosislarge language models

Identifiers

PMID39222060
PMCPMC11367762

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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.