{"title":"利用来自多形性胶质母细胞瘤研究的多种高维基因组数据,用自编码器识别生存亚型。","authors":"Imran Parvez, Jie Chen","doi":"10.1093/bib/bbaf499","DOIUrl":null,"url":null,"abstract":"<p><p>Analysis of multiple types of omics data facilitates a comprehensive revelation of molecular-level complexity and interactions among genomic features. This knowledge promotes the development of new therapies for treating different genomic diseases. An integrative study of multiple types of genomic data instead of a single type of genomic data will be more informative in understanding the complicated molecular activities and their interactions. In this work, we integrated RNA-sequencing (RNA-seq), methylation, and DNA copy number variation data, downloaded from the TCGA public repository, of glioblastoma multiforme (GBM), reduced the dimension of these high-dimensional genomic data using an autoencoder, a deep learning-based method, and then used Cox-PH model to select the autoencoder-transformed features that have a significant contribution to patient survival. We utilized the significant set of autoencoder-transformed features to classify the survival subtypes using the integrated data. We built a classification model with a penalization technique, sparse group LASSO, and evaluated the approach using cross-validation. As a result, two survival subgroups, with overall different survival profiles and linking to various genomic features, are discovered for respective GBM patients. Finally, the results are interpreted biologically by differential expression analysis and pathway analysis.</p>","PeriodicalId":9209,"journal":{"name":"Briefings in bioinformatics","volume":"26 5","pages":""},"PeriodicalIF":7.7000,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476842/pdf/","citationCount":"0","resultStr":"{\"title\":\"Identifying survival subtypes with autoencoder using multiple types of high-dimensional genomic data from studies of glioblastoma multiforme.\",\"authors\":\"Imran Parvez, Jie Chen\",\"doi\":\"10.1093/bib/bbaf499\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Analysis of multiple types of omics data facilitates a comprehensive revelation of molecular-level complexity and interactions among genomic features. This knowledge promotes the development of new therapies for treating different genomic diseases. An integrative study of multiple types of genomic data instead of a single type of genomic data will be more informative in understanding the complicated molecular activities and their interactions. In this work, we integrated RNA-sequencing (RNA-seq), methylation, and DNA copy number variation data, downloaded from the TCGA public repository, of glioblastoma multiforme (GBM), reduced the dimension of these high-dimensional genomic data using an autoencoder, a deep learning-based method, and then used Cox-PH model to select the autoencoder-transformed features that have a significant contribution to patient survival. We utilized the significant set of autoencoder-transformed features to classify the survival subtypes using the integrated data. We built a classification model with a penalization technique, sparse group LASSO, and evaluated the approach using cross-validation. As a result, two survival subgroups, with overall different survival profiles and linking to various genomic features, are discovered for respective GBM patients. Finally, the results are interpreted biologically by differential expression analysis and pathway analysis.</p>\",\"PeriodicalId\":9209,\"journal\":{\"name\":\"Briefings in bioinformatics\",\"volume\":\"26 5\",\"pages\":\"\"},\"PeriodicalIF\":7.7000,\"publicationDate\":\"2025-08-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476842/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Briefings in bioinformatics\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1093/bib/bbaf499\",\"RegionNum\":2,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"BIOCHEMICAL RESEARCH METHODS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Briefings in bioinformatics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1093/bib/bbaf499","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"BIOCHEMICAL RESEARCH METHODS","Score":null,"Total":0}
Identifying survival subtypes with autoencoder using multiple types of high-dimensional genomic data from studies of glioblastoma multiforme.
Analysis of multiple types of omics data facilitates a comprehensive revelation of molecular-level complexity and interactions among genomic features. This knowledge promotes the development of new therapies for treating different genomic diseases. An integrative study of multiple types of genomic data instead of a single type of genomic data will be more informative in understanding the complicated molecular activities and their interactions. In this work, we integrated RNA-sequencing (RNA-seq), methylation, and DNA copy number variation data, downloaded from the TCGA public repository, of glioblastoma multiforme (GBM), reduced the dimension of these high-dimensional genomic data using an autoencoder, a deep learning-based method, and then used Cox-PH model to select the autoencoder-transformed features that have a significant contribution to patient survival. We utilized the significant set of autoencoder-transformed features to classify the survival subtypes using the integrated data. We built a classification model with a penalization technique, sparse group LASSO, and evaluated the approach using cross-validation. As a result, two survival subgroups, with overall different survival profiles and linking to various genomic features, are discovered for respective GBM patients. Finally, the results are interpreted biologically by differential expression analysis and pathway analysis.
期刊介绍:
Briefings in Bioinformatics is an international journal serving as a platform for researchers and educators in the life sciences. It also appeals to mathematicians, statisticians, and computer scientists applying their expertise to biological challenges. The journal focuses on reviews tailored for users of databases and analytical tools in contemporary genetics, molecular and systems biology. It stands out by offering practical assistance and guidance to non-specialists in computerized methodologies. Covering a wide range from introductory concepts to specific protocols and analyses, the papers address bacterial, plant, fungal, animal, and human data.
The journal's detailed subject areas include genetic studies of phenotypes and genotypes, mapping, DNA sequencing, expression profiling, gene expression studies, microarrays, alignment methods, protein profiles and HMMs, lipids, metabolic and signaling pathways, structure determination and function prediction, phylogenetic studies, and education and training.