Martin Špendl , Jaka Kokošar , Ela Praznik , Luka Ausec , Miha Štajdohar , Blaž Zupan
{"title":"生存相关基因集的大规模基因集排序","authors":"Martin Špendl , Jaka Kokošar , Ela Praznik , Luka Ausec , Miha Štajdohar , Blaž Zupan","doi":"10.1016/j.artmed.2025.103149","DOIUrl":null,"url":null,"abstract":"<div><div>Disease progression is closely linked to shifts in the expression levels of specific genes within molecular pathways. While gene set enrichment analysis is a widely employed method for identifying key disease markers, it has been underutilized in survival analysis. Here, we introduce a novel computational approach that adapts gene set enrichment analysis for survival analysis. The proposed approach considers a gene set, computes a single-sample gene set enrichment score, and, based on this score, splits the samples into cohorts. It then scores the gene sets by evaluating the differences in survival rates between the resulting cohorts. We aim to find gene sets that can lead to cohorts with significantly different survival probabilities. Utilizing gene expression data from The Cancer Genome Atlas and gene sets from the Molecular Signature Database, our results demonstrate that existing empirical research consistently supports the top gene sets our approach associates with survival prognosis. The proposed method broadens gene set enrichment analysis applications to include information on survival, bridging the gap between alterations in molecular pathways and their implications on survival.</div></div>","PeriodicalId":55458,"journal":{"name":"Artificial Intelligence in Medicine","volume":"167 ","pages":"Article 103149"},"PeriodicalIF":6.2000,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Large scale gene set ranking for survival-related gene sets\",\"authors\":\"Martin Špendl , Jaka Kokošar , Ela Praznik , Luka Ausec , Miha Štajdohar , Blaž Zupan\",\"doi\":\"10.1016/j.artmed.2025.103149\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Disease progression is closely linked to shifts in the expression levels of specific genes within molecular pathways. While gene set enrichment analysis is a widely employed method for identifying key disease markers, it has been underutilized in survival analysis. Here, we introduce a novel computational approach that adapts gene set enrichment analysis for survival analysis. The proposed approach considers a gene set, computes a single-sample gene set enrichment score, and, based on this score, splits the samples into cohorts. It then scores the gene sets by evaluating the differences in survival rates between the resulting cohorts. We aim to find gene sets that can lead to cohorts with significantly different survival probabilities. Utilizing gene expression data from The Cancer Genome Atlas and gene sets from the Molecular Signature Database, our results demonstrate that existing empirical research consistently supports the top gene sets our approach associates with survival prognosis. The proposed method broadens gene set enrichment analysis applications to include information on survival, bridging the gap between alterations in molecular pathways and their implications on survival.</div></div>\",\"PeriodicalId\":55458,\"journal\":{\"name\":\"Artificial Intelligence in Medicine\",\"volume\":\"167 \",\"pages\":\"Article 103149\"},\"PeriodicalIF\":6.2000,\"publicationDate\":\"2025-05-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Artificial Intelligence in Medicine\",\"FirstCategoryId\":\"5\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0933365725000843\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"COMPUTER SCIENCE, ARTIFICIAL INTELLIGENCE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Artificial Intelligence in Medicine","FirstCategoryId":"5","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0933365725000843","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"COMPUTER SCIENCE, ARTIFICIAL INTELLIGENCE","Score":null,"Total":0}
Large scale gene set ranking for survival-related gene sets
Disease progression is closely linked to shifts in the expression levels of specific genes within molecular pathways. While gene set enrichment analysis is a widely employed method for identifying key disease markers, it has been underutilized in survival analysis. Here, we introduce a novel computational approach that adapts gene set enrichment analysis for survival analysis. The proposed approach considers a gene set, computes a single-sample gene set enrichment score, and, based on this score, splits the samples into cohorts. It then scores the gene sets by evaluating the differences in survival rates between the resulting cohorts. We aim to find gene sets that can lead to cohorts with significantly different survival probabilities. Utilizing gene expression data from The Cancer Genome Atlas and gene sets from the Molecular Signature Database, our results demonstrate that existing empirical research consistently supports the top gene sets our approach associates with survival prognosis. The proposed method broadens gene set enrichment analysis applications to include information on survival, bridging the gap between alterations in molecular pathways and their implications on survival.
期刊介绍:
Artificial Intelligence in Medicine publishes original articles from a wide variety of interdisciplinary perspectives concerning the theory and practice of artificial intelligence (AI) in medicine, medically-oriented human biology, and health care.
Artificial intelligence in medicine may be characterized as the scientific discipline pertaining to research studies, projects, and applications that aim at supporting decision-based medical tasks through knowledge- and/or data-intensive computer-based solutions that ultimately support and improve the performance of a human care provider.