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Clinical use of polygenic risk scores: current status, barriers and future directions. 多基因风险评分的临床应用现状、障碍及未来发展方向。
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-10-10 DOI: 10.1038/s41576-025-00900-8
Iftikhar J Kullo
{"title":"Clinical use of polygenic risk scores: current status, barriers and future directions.","authors":"Iftikhar J Kullo","doi":"10.1038/s41576-025-00900-8","DOIUrl":"https://doi.org/10.1038/s41576-025-00900-8","url":null,"abstract":"Genome-wide association studies have identified thousands of single-nucleotide variants that are associated with complex traits, including cardiometabolic diseases, cancers and neurological disorders. Polygenic risk scores (PRSs), which aggregate the effects of these variants, can help to identify individuals who are at increased risk of developing such diseases. As PRSs are typically only weakly associated with conventional risk factors for these diseases, they have incremental predictive value and are beginning to be incorporated into clinical practice to guide early detection and preventive strategies. However, challenges to their use - such as suboptimal precision, poor transferability across diverse populations and low familiarity among patients and providers with the concept of polygenic risk - must be addressed before their broader clinical adoption. This Review explores the current state of the field, highlights key challenges and outlines future directions for the use of PRSs to improve risk prediction and to advance personalized prevention in clinical care.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"120 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145261296","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
Forensic genetics in the omics era. 组学时代的法医遗传学。
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-10-08 DOI: 10.1038/s41576-025-00896-1
Manfred Kayser
{"title":"Forensic genetics in the omics era.","authors":"Manfred Kayser","doi":"10.1038/s41576-025-00896-1","DOIUrl":"https://doi.org/10.1038/s41576-025-00896-1","url":null,"abstract":"Recent advances in forensic genetics, driven by technological innovation coupled with the use of an expanding range of nucleic acid markers, have markedly improved the scope, accuracy and reliability of evidential information obtainable from human biological traces recovered at crime scenes. The majority of these biomarkers have been identified using non-targeted omics approaches, including genomics, transcriptomics, epigenomics and microbiome profiling. Moreover, targeted massively parallel sequencing, in some cases non-targeted whole-genome sequencing, are being applied to the analyses of biological trace material. These approaches and methods are being used for the identification of perpetrators (including monozygotic twins), their relatives or victims of criminal activities; the prediction of phenotypic and behavioural traits of unknown individuals; and the determination of trace characteristics, including tissue type and time of deposition.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"9 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145246592","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
Host-pathogen interactions shape human evolution and future pandemics. 宿主-病原体相互作用影响着人类进化和未来的流行病。
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-10-07 DOI: 10.1038/s41576-025-00902-6
Tzachi Hagai
{"title":"Host-pathogen interactions shape human evolution and future pandemics.","authors":"Tzachi Hagai","doi":"10.1038/s41576-025-00902-6","DOIUrl":"https://doi.org/10.1038/s41576-025-00902-6","url":null,"abstract":"","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"21 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145241094","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
The evolution of Mycobacterium tuberculosis as humans migrated out of Africa. 人类迁出非洲时结核分枝杆菌的进化。
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-10-01 DOI: 10.1038/s41576-025-00901-7
Sara Suliman
{"title":"The evolution of Mycobacterium tuberculosis as humans migrated out of Africa.","authors":"Sara Suliman","doi":"10.1038/s41576-025-00901-7","DOIUrl":"https://doi.org/10.1038/s41576-025-00901-7","url":null,"abstract":"","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"100 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145203856","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
Spatial architecture of development and disease. 发展和疾病的空间建筑。
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-09-30 DOI: 10.1038/s41576-025-00892-5
Enikő Lázár,Joakim Lundeberg
{"title":"Spatial architecture of development and disease.","authors":"Enikő Lázár,Joakim Lundeberg","doi":"10.1038/s41576-025-00892-5","DOIUrl":"https://doi.org/10.1038/s41576-025-00892-5","url":null,"abstract":"Tissue architecture is a product of a multilayered molecular landscape, where even subtle disruptions in the spatial context can initiate or reflect disease processes. Recent advances in high-throughput spatial omics technologies have enabled the investigation of this complexity in stunning detail, providing groundbreaking insights into how spatial molecular organization shapes health and disease. Spatial analysis empowers the discovery of developmental and disease-associated molecular signatures, cell states and multicellular niches, as well as the evaluation of disease heterogeneity within and across organs. This Review examines spatially resolved pathological molecular alterations in a wide range of disease processes, such as developmental disorders, tumorigenesis, fibrosis and injury responses, neurodegeneration, infection and inflammation, through the lens of these universal biological frameworks. We discuss challenges, opportunities and promising examples in advancing these technologies to clinical applications, including the increasing importance of artificial intelligence. Finally, we explore possible avenues for a more comprehensive, multidimensional assessment of tissues.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"18 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145194676","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
A clinical milestone for CRISPR in sickle-cell disease. CRISPR治疗镰状细胞病的临床里程碑。
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-09-26 DOI: 10.1038/s41576-025-00898-z
Gerald Mboowa
{"title":"A clinical milestone for CRISPR in sickle-cell disease.","authors":"Gerald Mboowa","doi":"10.1038/s41576-025-00898-z","DOIUrl":"https://doi.org/10.1038/s41576-025-00898-z","url":null,"abstract":"","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"85 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145153413","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
Advances in haplotype phasing and genotype imputation. 单倍型分期和基因型插入的研究进展。
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-09-24 DOI: 10.1038/s41576-025-00895-2
Quan Sun,Yun Li
{"title":"Advances in haplotype phasing and genotype imputation.","authors":"Quan Sun,Yun Li","doi":"10.1038/s41576-025-00895-2","DOIUrl":"https://doi.org/10.1038/s41576-025-00895-2","url":null,"abstract":"Haplotype phasing - to determine which genetic variants reside on the same chromosome - and genotype imputation - to infer unobserved genotypes - have become indispensable steps to improve genome coverage for genomic analyses such as genome-wide association studies. Several tools exist for haplotype phasing and genotype imputation, all of which have continuously evolved to accommodate the increasing sample sizes of genomic studies and rapidly improving sequencing technologies. To fully leverage these recent advances, researchers must deliberate several practical considerations, including tool choice, quality control filters, data privacy concerns and reference panel choice. Looking ahead, long-read sequencing technologies are poised to bring novel opportunities to this field and drive methodological development.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"30 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145134339","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
Predicting the regulatory genome 预测调控基因组
IF 52 1区 生物学
Nature Reviews Genetics Pub Date : 2025-09-16 DOI: 10.1038/s41576-025-00887-2
Sarthak Tiwari, Alireza Karbalayghareh, Christina S. Leslie
{"title":"Predicting the regulatory genome","authors":"Sarthak Tiwari, Alireza Karbalayghareh, Christina S. Leslie","doi":"10.1038/s41576-025-00887-2","DOIUrl":"10.1038/s41576-025-00887-2","url":null,"abstract":"Deep learning models have made impressive strides in decoding the regulatory genome, but key challenges remain unsolved. In this Comment, the authors overview the latest deep learning models for predicting regulatory function from genomic sequence and highlight key topics going forward, including the trade-off between specialized and general models, multitasking across cell types, and training on genetic variation and diverse species.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"26 10","pages":"659-660"},"PeriodicalIF":52.0,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145067697","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
Cis-regulatory elements at cellular resolution 细胞分辨率的顺式调控元件
IF 52 1区 生物学
Nature Reviews Genetics Pub Date : 2025-09-16 DOI: 10.1038/s41576-025-00882-7
Yi Xiang See, Tim Stuart, Jay W. Shin
{"title":"Cis-regulatory elements at cellular resolution","authors":"Yi Xiang See, Tim Stuart, Jay W. Shin","doi":"10.1038/s41576-025-00882-7","DOIUrl":"10.1038/s41576-025-00882-7","url":null,"abstract":"Recent advances in single-cell profiling technologies now enable routine and scalable measurements of cis-regulatory element activity across diverse cell types, disease states and genetic backgrounds. It is time to coordinate a global effort to systematically map cis-regulatory element function at single-cell resolution. In this Comment, the authors outline some key next steps to advance our understanding of cis-regulatory elements at single-cell resolution, which includes harmonizing global efforts to construct a comprehensive single-cell atlas of gene regulation.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"26 10","pages":"653-654"},"PeriodicalIF":52.0,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145067699","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
Regulatory genome annotation 调控基因组注释
IF 52 1区 生物学
Nature Reviews Genetics Pub Date : 2025-09-16 DOI: 10.1038/s41576-025-00885-4
Sushant Kumar, Mark Gerstein
{"title":"Regulatory genome annotation","authors":"Sushant Kumar, Mark Gerstein","doi":"10.1038/s41576-025-00885-4","DOIUrl":"10.1038/s41576-025-00885-4","url":null,"abstract":"Large-scale annotation efforts over the past two decades have identified regulatory regions and networks through functional genomics and evolutionary analyses. The challenge now will be to incorporate the many ‘heterogeneities’ of gene regulation — across cell types, developmental stages and individuals — into regulatory annotation based on new experimental and computational approaches. After more than two decades of large-scale efforts to annotate the regulatory genome, Sushant Kumar and Mark Gerstein forecast how new technologies and experimental approaches will pave the way in mapping regulatory elements across cell types, developmental stages and genetically diverse individuals.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"26 10","pages":"661-662"},"PeriodicalIF":52.0,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145067700","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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