{"title":"预重叠:评估特征接近/重叠和测试基因组间隔的统计显著性。","authors":"Nicolò Gualandi,Alessio Bertozzo,Claudio Brancolini","doi":"10.1016/j.jbc.2025.110209","DOIUrl":null,"url":null,"abstract":"Feature overlap is a critical concept in bioinformatics and occurs when two genomic intervals, usually represented as BED files, are located in the same genomic regions. Instead, feature proximity refers to the spatial proximity of genomic elements. For example, promoters typically overlap or are close to the genes they regulate. Overlap and proximity are also important in epigenetic studies. Here, the overlap of regions enriched for specific epigenetic modifications or accessible chromatin can elucidate complex molecular phenotypes. Consequently, the ability to analyze and interpret feature overlap and proximity is essential for understanding the biological processes that contribute to a given phenotype. To address this need, we present a computational method capable of analyzing data represented in the BED format. This method aims to quantitatively assess the degree of proximity or overlap between genomic features and to determine the statistical significance of these events in the context of a non-parametric randomization test. The aim is to understand whether the observed state differs from what would be expected by chance. The method is designed to be easy to use, requiring only a single command line to run, allowing straightforward overlap and proximity analysis. It also provides clear visualizations and publication-quality figures. In conclusion, this study highlights the importance of feature overlap and proximity in epigenetic studies and presents a method to improve the systematic assessment and interpretation of these features. A new resource for identifying biologically significant interactions between genomic features in both healthy and disease states.","PeriodicalId":15140,"journal":{"name":"Journal of Biological Chemistry","volume":"3 1","pages":"110209"},"PeriodicalIF":4.0000,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"ProOvErlap: Assessing feature proximity/overlap and testing statistical significance from genomic intervals.\",\"authors\":\"Nicolò Gualandi,Alessio Bertozzo,Claudio Brancolini\",\"doi\":\"10.1016/j.jbc.2025.110209\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Feature overlap is a critical concept in bioinformatics and occurs when two genomic intervals, usually represented as BED files, are located in the same genomic regions. Instead, feature proximity refers to the spatial proximity of genomic elements. For example, promoters typically overlap or are close to the genes they regulate. Overlap and proximity are also important in epigenetic studies. Here, the overlap of regions enriched for specific epigenetic modifications or accessible chromatin can elucidate complex molecular phenotypes. Consequently, the ability to analyze and interpret feature overlap and proximity is essential for understanding the biological processes that contribute to a given phenotype. To address this need, we present a computational method capable of analyzing data represented in the BED format. This method aims to quantitatively assess the degree of proximity or overlap between genomic features and to determine the statistical significance of these events in the context of a non-parametric randomization test. The aim is to understand whether the observed state differs from what would be expected by chance. The method is designed to be easy to use, requiring only a single command line to run, allowing straightforward overlap and proximity analysis. It also provides clear visualizations and publication-quality figures. In conclusion, this study highlights the importance of feature overlap and proximity in epigenetic studies and presents a method to improve the systematic assessment and interpretation of these features. A new resource for identifying biologically significant interactions between genomic features in both healthy and disease states.\",\"PeriodicalId\":15140,\"journal\":{\"name\":\"Journal of Biological Chemistry\",\"volume\":\"3 1\",\"pages\":\"110209\"},\"PeriodicalIF\":4.0000,\"publicationDate\":\"2025-05-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Biological Chemistry\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1016/j.jbc.2025.110209\",\"RegionNum\":2,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Biological Chemistry","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1016/j.jbc.2025.110209","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
ProOvErlap: Assessing feature proximity/overlap and testing statistical significance from genomic intervals.
Feature overlap is a critical concept in bioinformatics and occurs when two genomic intervals, usually represented as BED files, are located in the same genomic regions. Instead, feature proximity refers to the spatial proximity of genomic elements. For example, promoters typically overlap or are close to the genes they regulate. Overlap and proximity are also important in epigenetic studies. Here, the overlap of regions enriched for specific epigenetic modifications or accessible chromatin can elucidate complex molecular phenotypes. Consequently, the ability to analyze and interpret feature overlap and proximity is essential for understanding the biological processes that contribute to a given phenotype. To address this need, we present a computational method capable of analyzing data represented in the BED format. This method aims to quantitatively assess the degree of proximity or overlap between genomic features and to determine the statistical significance of these events in the context of a non-parametric randomization test. The aim is to understand whether the observed state differs from what would be expected by chance. The method is designed to be easy to use, requiring only a single command line to run, allowing straightforward overlap and proximity analysis. It also provides clear visualizations and publication-quality figures. In conclusion, this study highlights the importance of feature overlap and proximity in epigenetic studies and presents a method to improve the systematic assessment and interpretation of these features. A new resource for identifying biologically significant interactions between genomic features in both healthy and disease states.
期刊介绍:
The Journal of Biological Chemistry welcomes high-quality science that seeks to elucidate the molecular and cellular basis of biological processes. Papers published in JBC can therefore fall under the umbrellas of not only biological chemistry, chemical biology, or biochemistry, but also allied disciplines such as biophysics, systems biology, RNA biology, immunology, microbiology, neurobiology, epigenetics, computational biology, ’omics, and many more. The outcome of our focus on papers that contribute novel and important mechanistic insights, rather than on a particular topic area, is that JBC is truly a melting pot for scientists across disciplines. In addition, JBC welcomes papers that describe methods that will help scientists push their biochemical inquiries forward and resources that will be of use to the research community.