Evidence map›Paper›PMID 39391931›Full record

ArticleBriefings in bioinformatics2024

PathMethy: an interpretable AI framework for cancer origin tracing based on DNA methylation.

Jiajing Xie, Yuhang Song, Hailong Zheng, Shijie Luo, Ying Chen, Chen Zhang, Rongshan Yu, Mengsha Tong

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 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Review
  3. Pathway-guided architectures for interpretable AI in biological research.Computational and structural biotechnology journal · 2025
    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

8 authors.

Jiajing XieNational Institute for Data Science in Health and Medicine, Xiamen University, No. 4221-121 South Xiang'an Road, Xiamen, Fujian 361102, China.
Yuhang SongSchool of Informatics, Xiamen University, No. 4221-121 South Xiang'an Road, Xiamen, Fujian 361005, China.
Hailong ZhengDepartment of Bioinformatics, School of Basic Medical Sciences, Southern Medical University, No. 1023, South Shatai Road, Baiyun District, Guangzhou, Guangdong, 510515, China.ORCID 0009-0001-4772-2356
Shijie LuoNational Institute for Data Science in Health and Medicine, Xiamen University, No. 4221-121 South Xiang'an Road, Xiamen, Fujian 361102, China.
Ying ChenSchool of Informatics, Xiamen University, No. 4221-121 South Xiang'an Road, Xiamen, Fujian 361005, China.
Chen ZhangNational Institute for Data Science in Health and Medicine, Xiamen University, No. 4221-121 South Xiang'an Road, Xiamen, Fujian 361102, China.
Rongshan YuNational Institute for Data Science in Health and Medicine, Xiamen University, No. 4221-121 South Xiang'an Road, Xiamen, Fujian 361102, China.ORCID 0000-0003-2179-173X
Mengsha TongNational Institute for Data Science in Health and Medicine, Xiamen University, No. 4221-121 South Xiang'an Road, Xiamen, Fujian 361102, China.

Funding

National Natural Science Foundation of China 82002529Natural Science Foundation of Xiamen, China 3502Z202471014Wang Deyao Project Fund 0660-T040001Xiamen University President's Fund Cultivation Project 20720210095
6 · The paper itself

Abstract

Despite advanced diagnostics, 3%-5% of cases remain classified as cancer of unknown primary (CUP). DNA methylation, an important epigenetic feature, is essential for determining the origin of metastatic tumors. We presented PathMethy, a novel Transformer model integrated with functional categories and crosstalk of pathways, to accurately trace the origin of tumors in CUP samples based on DNA methylation. PathMethy outperformed seven competing methods in F1-score across nine cancer datasets and predicted accurately the molecular subtypes within nine primary tumor types. It not only excelled at tracing the origins of both primary and metastatic tumors but also demonstrated a high degree of agreement with previously diagnosed sites in cases of CUP. PathMethy provided biological insights by highlighting key pathways, functional categories, and their interactions. Using functional categories of pathways, we gained a global understanding of biological processes. For broader access, a user-friendly web server for researchers and clinicians is available at https://cup.pathmethy.com.

Indexed as

DNA MethylationNeoplasmsAlgorithmsArtificial IntelligenceComputational BiologyEpigenesis, GeneticHumansSoftwarebiological pathwaycancer of unknown primary (CUP)DNA methylationtracing the origin of cancertransformer model

Identifiers

PMID39391931
PMCPMC11467402

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Registered trials

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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.