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When the genome learned its own vocabulary 当基因组学会了自己的词汇。
IF 51.4 1区 生物学
Nature Reviews Genetics Pub Date : 2026-04-27 DOI: 10.1038/s41576-026-00966-y
Maria Brbić
{"title":"When the genome learned its own vocabulary","authors":"Maria Brbić","doi":"10.1038/s41576-026-00966-y","DOIUrl":"10.1038/s41576-026-00966-y","url":null,"abstract":"In this Journal Club article, Maria Brbić discusses DeepSEA, a pioneering deep convolutional neural network to predict functional effects of non-coding variants, and its influence on computational genomics.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"27 8","pages":"584-584"},"PeriodicalIF":51.4,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147753064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
More than meets the eye(spot): evolution through co-option of developmental programmes 不仅仅是眼前（斑点）：通过发展方案的共同选择进行进化。
IF 51.4 1区 生物学
Nature Reviews Genetics Pub Date : 2026-04-22 DOI: 10.1038/s41576-026-00957-z
Francisca M. Real
{"title":"More than meets the eye(spot): evolution through co-option of developmental programmes","authors":"Francisca M. Real","doi":"10.1038/s41576-026-00957-z","DOIUrl":"10.1038/s41576-026-00957-z","url":null,"abstract":"In this Journal Club, Francisca Real recalls a 1999 paper by Keys et al. that dissected the mechanistic underpinnings of butterfly wing spot development, which ultimately provided one of the earliest and clearest examples of phenotypic evolution by genetic co-option.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"27 7","pages":"509-510"},"PeriodicalIF":51.4,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147733925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
TimeVault: a synthetic time capsule for transcriptome storage TimeVault：用于转录组存储的合成时间胶囊。
IF 51.4 1区 生物学
Nature Reviews Genetics Pub Date : 2026-04-22 DOI: 10.1038/s41576-026-00956-0
Yu-Kai Chao
{"title":"TimeVault: a synthetic time capsule for transcriptome storage","authors":"Yu-Kai Chao","doi":"10.1038/s41576-026-00956-0","DOIUrl":"10.1038/s41576-026-00956-0","url":null,"abstract":"In this Tools of the Trade article, Yu-Kai Chao describes TimeVault, an inducible system that can store transcriptomes at defined time points, enabling temporal changes in transcriptional state to be linked to biological events.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"27 8","pages":"579-579"},"PeriodicalIF":51.4,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147733926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reading cell division histories from the methylome 从甲基组读取细胞分裂历史。
IF 52 1区 生物学
Nature Reviews Genetics Pub Date : 2026-04-22 DOI: 10.1038/s41576-026-00958-y
Shou-Wen Wang  (, )
{"title":"Reading cell division histories from the methylome","authors":"Shou-Wen Wang \u0000 (, )","doi":"10.1038/s41576-026-00958-y","DOIUrl":"10.1038/s41576-026-00958-y","url":null,"abstract":"In this Journal Club, Shou-Wen Wang recalls a seminal paper by Yatabe et al., which harnessed stochastic DNA methylation patterns in the human colon for epigenetic lineage tracing, and influenced the development of the computational framework MethylTree two decades later.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"27 6","pages":"427-427"},"PeriodicalIF":52.0,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147733928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tools and tactics for studying alternative splicing 研究选择性剪接的工具和策略。
IF 51.4 1区 生物学
Nature Reviews Genetics Pub Date : 2026-04-17 DOI: 10.1038/s41576-026-00952-4
Rui Sousa-Luís, Maria Carmo-Fonseca
{"title":"Tools and tactics for studying alternative splicing","authors":"Rui Sousa-Luís, Maria Carmo-Fonseca","doi":"10.1038/s41576-026-00952-4","DOIUrl":"10.1038/s41576-026-00952-4","url":null,"abstract":"Alternative splicing generates transcriptomic diversity essential for cellular homeostasis, and its dysregulation contributes to diseases ranging from rare genetic disorders to cancer. For decades, technical barriers limited the ability to map and interpret alternative splicing but recent developments are now transforming the field. Long-read sequencing provides isoform-resolved views at bulk, single-cell and spatially resolved levels and CRISPR-based assays make it possible to directly test the functional impact of splicing isoforms. Population studies reveal how genetic variation shapes splicing and disease risk, and deep learning models are beginning to decode the splicing language. Collectively, these advances promise not only to illuminate fundamental principles of splicing regulation but also to enable diagnostic and therapeutic strategies tailored to individual splicing profiles. In this Review, Sousa-Luís and Carmo-Fonseca discuss the various tools available to detect and quantify alternative splicing, functionally test splice isoforms and investigate the link between genetic variation, splicing and disease.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"27 8","pages":"642-660"},"PeriodicalIF":51.4,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147702062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CRISPR–Cas-based live cell imaging of genome dynamics 基于crispr - cas的活细胞基因组动力学成像。
IF 51.4 1区 生物学
Nature Reviews Genetics Pub Date : 2026-04-08 DOI: 10.1038/s41576-026-00949-z
Yanyu Zhu, W. E. Moerner, Lei S. Qi
{"title":"CRISPR–Cas-based live cell imaging of genome dynamics","authors":"Yanyu Zhu, W. E. Moerner, Lei S. Qi","doi":"10.1038/s41576-026-00949-z","DOIUrl":"10.1038/s41576-026-00949-z","url":null,"abstract":"The 3D architecture and dynamics of the genome are crucial for regulation of genome stability, transcription and cellular function. CRISPR-based live imaging technologies have enabled real-time visualization of specific genomic loci and transcripts in living cells. These tools harness customized guide RNAs and nuclease-deactivated Cas effectors to achieve precise genomic targeting, and recent methodological advances provide the 3D spatiotemporal resolution required to decipher real-time chromatin communication. These methods are elucidating the biophysical properties of chromatin, linking dynamic enhancer–promoter interactions directly to transcription, and revealing the role of 3D genome dynamics in basic cellular processes and disease. Here, we summarize the development of CRISPR-based live-cell imaging techniques, highlight the complementary 3D microscopy and analysis methods compatible with these methods, and offer perspectives on their applications to uncover fundamental principles that govern genome dynamics and function. In this Review, Zhu et al. outline the various CRISPR-based tools recently built for dynamic DNA and RNA imaging, which have provided insights into various molecular mechanisms. The authors also discuss the important parameters to consider when using these tools, and how to approach the quantitative image analysis.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"27 8","pages":"622-641"},"PeriodicalIF":51.4,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147636188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
DNA assembly with Sidewinder via 3-way junctions 通过三通结与响尾蛇进行DNA组装。
IF 52 1区 生物学
Nature Reviews Genetics Pub Date : 2026-04-01 DOI: 10.1038/s41576-026-00955-1
Kaihang Wang
{"title":"DNA assembly with Sidewinder via 3-way junctions","authors":"Kaihang Wang","doi":"10.1038/s41576-026-00955-1","DOIUrl":"10.1038/s41576-026-00955-1","url":null,"abstract":"In this Tools of the Trade article, Kaihang Wang describes Sidewinder, a new tool that leverages ‘page number’ barcodes and 3-way junctions to scarlessly assemble DNA with high fidelity, expanding the scope of what DNA writing can achieve.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"27 6","pages":"424-424"},"PeriodicalIF":52.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147585831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unlocking the potential of pedigree genomics via precision governance 通过精确管理释放谱系基因组学的潜力。
IF 52 1区 生物学
Nature Reviews Genetics Pub Date : 2026-03-30 DOI: 10.1038/s41576-026-00954-2
Huiqi Lin  (, ), Lulu Ding  (, ), XinYue Hu  (, ), Ruohan Feng  (, ), Yaojin Peng  (, )
{"title":"Unlocking the potential of pedigree genomics via precision governance","authors":"Huiqi Lin \u0000 (, ), Lulu Ding \u0000 (, ), XinYue Hu \u0000 (, ), Ruohan Feng \u0000 (, ), Yaojin Peng \u0000 (, )","doi":"10.1038/s41576-026-00954-2","DOIUrl":"10.1038/s41576-026-00954-2","url":null,"abstract":"China’s large, multi-generational pedigrees provide a distinctive genomic resource for precision medicine but present a governance challenge. We propose a new framework that addresses the core contradiction between individual-centric governance and the collective nature of these genomic datasets.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"27 6","pages":"421-423"},"PeriodicalIF":52.0,"publicationDate":"2026-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147578299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
How classical genetics uncovered key determinants of TE silencing 经典遗传学如何揭示TE沉默的关键决定因素。
IF 52 1区 生物学
Nature Reviews Genetics Pub Date : 2026-03-25 DOI: 10.1038/s41576-026-00951-5
Emilie Brasset
{"title":"How classical genetics uncovered key determinants of TE silencing","authors":"Emilie Brasset","doi":"10.1038/s41576-026-00951-5","DOIUrl":"10.1038/s41576-026-00951-5","url":null,"abstract":"In this Journal Club, Emilie Brasset highlights a 1995 publication by Prud’homme et al., who designed a clever genetic assay to identify a gene important for TE silencing, which provided a crucial foundation for later studies to unravel the underlying mechanisms.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"27 6","pages":"426-426"},"PeriodicalIF":52.0,"publicationDate":"2026-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147512964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic influences on haematopoiesis 遗传对造血的影响。
IF 51.4 1区 生物学
Nature Reviews Genetics Pub Date : 2026-03-23 DOI: 10.1038/s41576-026-00947-1
Michael Poeschla, Vijay G. Sankaran
{"title":"Genetic influences on haematopoiesis","authors":"Michael Poeschla, Vijay G. Sankaran","doi":"10.1038/s41576-026-00947-1","DOIUrl":"10.1038/s41576-026-00947-1","url":null,"abstract":"Haematopoiesis has long been a paradigm for understanding how human genetic variation can influence physiology in health and disease, ranging from the genetic characterization of Mendelian blood diseases to population-scale genomic studies of blood cell phenotypes and diseases. More recently, advances in single-cell genomics and variant-to-function mapping are enabling mechanistic insights into how genetic variation shapes blood cell development. Alongside inherited variation, the characterization of somatic mutations accumulating in haematopoietic stem cells during the lifespan has revealed clonal haematopoiesis as a ubiquitous evolutionary process, with heterogeneous clonal expansions impacting haematopoietic function and disease risk. Insights from genetic studies of haematopoiesis are translating into therapeutic applications, transforming treatment for monogenic blood disorders and promising broader applications. As methods continue to advance, haematopoiesis will remain central to understanding how genetic variation influences human biology, disease susceptibility and therapeutic response. Haematopoiesis is a classic process for understanding the genetic basis of human health and disease. In this Review, Poeschla and Sankaran discuss this history and more recent advances in our understanding of the roles of rare variants in monogenic blood diseases, germline and somatic variants in population-level variation, as well as emerging therapeutic applications.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"27 8","pages":"603-621"},"PeriodicalIF":51.4,"publicationDate":"2026-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147504359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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