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。

IF 4 2区 生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY
Nicolò Gualandi,Alessio Bertozzo,Claudio Brancolini
{"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}
引用次数: 0

摘要

特征重叠是生物信息学中的一个重要概念,当两个基因组间隔(通常表示为BED文件)位于相同的基因组区域时,就会发生特征重叠。相反,特征接近性是指基因组元素的空间接近性。例如,启动子通常重叠或靠近它们所调节的基因。重叠和接近在表观遗传学研究中也很重要。在这里,特定表观遗传修饰或可接近染色质富集区域的重叠可以阐明复杂的分子表型。因此,分析和解释特征重叠和接近的能力对于理解导致给定表型的生物过程至关重要。为了满足这一需求,我们提出了一种能够分析以BED格式表示的数据的计算方法。该方法旨在定量评估基因组特征之间的接近或重叠程度,并在非参数随机化测试的背景下确定这些事件的统计显著性。其目的是了解观察到的状态是否与偶然预期的状态不同。该方法被设计为易于使用,只需要一个命令行运行,允许直接的重叠和接近分析。它还提供了清晰的可视化和出版质量的数据。总之,本研究强调了特征重叠和接近在表观遗传学研究中的重要性,并提出了一种改进这些特征的系统评估和解释的方法。鉴定健康和疾病状态下基因组特征之间具有生物学意义的相互作用的新资源。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Journal of Biological Chemistry
Journal of Biological Chemistry Biochemistry, Genetics and Molecular Biology-Biochemistry
自引率
4.20%
发文量
1233
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.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信