Nature Reviews Genetics最新文献_第3页

Rethinking life through digital evolution 通过数字进化重新思考生命

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2025-07-31 DOI: 10.1038/s41576-025-00886-3

Chikara Furusawa

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Integrating the genome and exposome for precision health in Kuwait. 整合基因组和暴露体以实现科威特的精确健康。

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2025-07-31 DOI: 10.1038/s41576-025-00883-6

Hamad Ali,Barrak Alahmad,Faisal H Al-Refaei,Ahmad Abou Tayoun,Hilal A Lashuel,Salman Al Sabah,Fahd Al-Mulla

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Methods and applications of in vivo CRISPR screening 体内CRISPR筛选的方法及应用

IF 52 1区生物学

Nature Reviews Genetics Pub Date : 2025-07-29 DOI: 10.1038/s41576-025-00873-8

Antonio J. Santinha, Alessio Strano, Randall J. Platt

{"title":"Methods and applications of in vivo CRISPR screening","authors":"Antonio J. Santinha, Alessio Strano, Randall J. Platt","doi":"10.1038/s41576-025-00873-8","DOIUrl":"10.1038/s41576-025-00873-8","url":null,"abstract":"A fundamental goal in genetics is to understand the connection between genotype and phenotype in health and disease. Genetic screens in which dozens to thousands of genetic elements are perturbed in a pooled fashion offer the opportunity to generate large-scale, information-rich and unbiased genotype–phenotype maps. Although typically applied in reductionist in vitro settings, methods enabling pooled CRISPR–Cas perturbation screening in vivo are gaining attention as they have the potential to accelerate the discovery and annotation of gene function across cells, tissues, developmental stages, disease states and species. In this Review, we discuss essential criteria for understanding, designing and implementing in vivo screening experiments, with a focus on pooled CRISPR-based screens in mice. We also highlight how the resulting datasets, combined with advances in multi-omics and artificial intelligence, will accelerate progress and enable fundamental discoveries across basic and translational sciences. In vivo CRISPR screens generate high-throughput, unbiased genotype–phenotypes maps for complex biological processes that cannot be studied in vitro. This Review outlines key criteria for understanding, designing and implementing such screens and discusses their potential impact on basic and translational research.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"26 10","pages":"702-718"},"PeriodicalIF":52.0,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144719695","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

Towards improved fine-mapping of candidate causal variants 改进候选因果变量的精细映射

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2025-07-28 DOI: 10.1038/s41576-025-00869-4

Zheng Li, Xiang Zhou

引用次数: 0

Decoding cell fate: human models reveal how SMAD2 variants shape development 解码细胞命运：人类模型揭示SMAD2变体如何影响发育

IF 52 1区生物学

Nature Reviews Genetics Pub Date : 2025-07-25 DOI: 10.1038/s41576-025-00881-8

Samira Musah

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Viromics approaches for the study of viral diversity and ecology in microbiomes 微生物组中病毒多样性和生态学研究的病毒组学方法

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2025-07-21 DOI: 10.1038/s41576-025-00871-w

Simon Roux, Clement Coclet

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An evolutionary continuum between non-coding and coding DNA 非编码DNA和编码DNA之间的进化连续体

IF 52 1区生物学

Nature Reviews Genetics Pub Date : 2025-07-21 DOI: 10.1038/s41576-025-00875-6

Josué Barrera-Redondo, Susana M. Coelho

引用次数: 0

Multiplexed assays of variant effect for clinical variant interpretation 临床变异解释中变异效应的多重分析

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2025-07-21 DOI: 10.1038/s41576-025-00870-x

Abbye E. McEwen, Malvika Tejura, Shawn Fayer, Lea M. Starita, Douglas M. Fowler

{"title":"Multiplexed assays of variant effect for clinical variant interpretation","authors":"Abbye E. McEwen, Malvika Tejura, Shawn Fayer, Lea M. Starita, Douglas M. Fowler","doi":"10.1038/s41576-025-00870-x","DOIUrl":"https://doi.org/10.1038/s41576-025-00870-x","url":null,"abstract":"<p>The rapid expansion of clinical genetic testing has markedly improved the detection of genetic variants. However, most variants lack the evidence needed to classify them as pathogenic or benign, resulting in the accumulation of variants of uncertain significance that cannot be used to diagnose or guide treatment of disease. Moreover, targeted therapy for cancer treatment increasingly depends on correctly identifying oncogenic driver mutations, but the oncogenicity of many variants identified in tumours remains unclear. To address these challenges, efforts to classify variants are increasingly using multiplexed assays of variant effect (MAVEs), which are massively scaled experiments that can generate functional data for thousands of variants simultaneously. The rise of MAVEs is accompanied by better guidance on the use of MAVE data for classifying germline variants to aid their clinical implementation. Here, we overview MAVE technologies from their inception to their increased use in the clinic, including their roles in uncovering mechanisms for variant pathogenicity and guiding targeted therapy and drug development.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"52 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144669634","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

Experimental evolution in an era of molecular manipulation 分子操纵时代的实验进化

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2025-07-21 DOI: 10.1038/s41576-025-00867-6

Joao A. Ascensao, Michael M. Desai

引用次数: 0

When cellular reprogramming meets AI: towards de novo cell design 当细胞重编程与人工智能相遇：走向全新的细胞设计

IF 52 1区生物学

Nature Reviews Genetics Pub Date : 2025-07-16 DOI: 10.1038/s41576-025-00878-3

Jian Shu

引用次数: 0