Evidence map›Paper›PMID 39704703›Full record

ArticleGigaScience2024

ssMutPA: single-sample mutation-based pathway analysis approach for cancer precision medicine.

Yalan He, Jiyin Lai, Qian Wang, Bingyue Pan, Siyuan Li, Xilong Zhao, Ziyi Wang, Yongbao Zhang, Yujie Tang, Junwei Han

Abstract read
In one paragraph

Article in GigaScience, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

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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

2 citing papers in PubMed.

  1. Identification and functional analysis ofTranslational cancer research · 2025
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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

10 authors.

Yalan HeCollege of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China.ORCID 0009-0009-5685-4527
Jiyin LaiCollege of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China.ORCID 0009-0004-9210-4575
Qian WangCollege of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China.ORCID 0009-0007-7227-6881
Bingyue PanCollege of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China.ORCID 0009-0003-4726-2374
Siyuan LiCollege of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China.ORCID 0009-0002-4118-4988
Xilong ZhaoCollege of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China.ORCID 0009-0001-6403-4096
Ziyi WangCollege of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China.ORCID 0009-0004-5274-1000
Yongbao ZhangCollege of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China.ORCID 0009-0008-6989-5822
Yujie TangCollege of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China.ORCID 0009-0000-5934-0657
Junwei HanCollege of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China.ORCID 0000-0002-3276-0819

Funding

National Natural Science Foundation of China 62072145Natural Science Foundation of Heilongjiang Province LH2019C042
6 · The paper itself

Abstract

backgroundSingle-sample pathway enrichment analysis is an effective approach for identifying cancer subtypes and pathway biomarkers, facilitating the development of precision medicine. However, the existing approaches focused on investigating the changes in gene expression levels but neglected somatic mutations, which play a crucial role in cancer development.

findingsIn this study, we proposed a novel single-sample mutation-based pathway analysis approach (ssMutPA) to infer individualized pathway activities by integrating somatic mutation data and the protein-protein interaction network. For each sample, ssMutPA first uses local and global weighted strategies to evaluate the effects of genes from mutations according to the network topology and then calculates a single-sample mutation-based pathway enrichment score (ssMutPES) to reflect the accumulated effect of mutations of each pathway. To illustrate the performance of ssMutPA, we applied it to 33 cancer cohorts from The Cancer Genome Atlas database and revealed patient stratification with significantly different prognosis in each cancer type based on the ssMutPES profiles. We also found that the identified characteristic pathways with high overlap across different cancers could be used as potential prognosis biomarkers. Moreover, we applied ssMutPA to 2 melanoma cohorts with immunotherapy and identified a subgroup of patients who may benefit from therapy.

conclusionsWe provided evidence that ssMutPA could infer mutation-based individualized pathway activity profiles and complement the current individualized pathway analysis approaches focused on gene expression data, which may offer the potential for the development of precision medicine. ssMutPA is available at https://CRAN.R-project.org/package=ssMutPA.

Indexed as

MutationNeoplasmsPrecision MedicineProtein Interaction MapsBiomarkers, TumorComputational BiologyDatabases, GeneticHumansPrognosisSignal TransductionBiomarkers, Tumorcancer subtypesnetwork topologyprecision medicinesingle-sample pathway analysissomatic mutation

Identifiers

PMID39704703
PMCPMC11659979

What Socratic holds

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LicenceCC BY
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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 Socratic graph.