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Biobanking with genetics shapes precision medicine and global health 生物库与遗传学塑造精准医疗和全球健康
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-11-20 DOI: 10.1038/s41576-024-00794-y
C. Scott Gallagher, Geoffrey S. Ginsburg, Anjené Musick

Precision medicine provides patients with access to personally tailored treatments based on individual-level data. However, developing personalized therapies requires analyses with substantial statistical power to map genetic and epidemiologic associations that ultimately create models informing clinical decisions. As one solution, biobanks have emerged as large-scale, longitudinal cohort studies with long-term storage of biological specimens and health information, including electronic health records and participant survey responses. By providing access to individual-level data for genotype–phenotype mapping efforts, pharmacogenomic studies, polygenic risk score assessments and rare variant analyses, biobanks support ongoing and future precision medicine research. Notably, due in part to the geographical enrichment of biobanks in Western Europe and North America, European ancestries have become disproportionately over-represented in precision medicine research. Herein, we provide a genetics-focused review of biobanks from around the world that are in pursuit of supporting precision medicine. We discuss the limitations of their designs, ongoing efforts to diversify genomics research and strategies to maximize the benefits of research leveraging biobanks for all.

精准医疗为患者提供了基于个体数据的个人定制疗法。然而,开发个性化疗法需要进行具有强大统计能力的分析,以绘制基因和流行病学关联图,最终建立模型,为临床决策提供依据。作为解决方案之一,生物库作为大规模纵向队列研究应运而生,长期储存生物样本和健康信息,包括电子健康记录和参与者的调查反馈。通过为基因型-表型图谱绘制工作、药物基因组学研究、多基因风险评分评估和罕见变异分析提供个人水平的数据访问,生物库为正在进行的和未来的精准医学研究提供了支持。值得注意的是,部分由于西欧和北美生物库的地域丰富性,欧洲血统在精准医学研究中的比例已经过高。在此,我们以遗传学为重点,回顾了世界各地为支持精准医学而建立的生物库。我们将讨论这些生物库设计的局限性、为实现基因组学研究多样化所做的不懈努力,以及使利用生物库开展的研究为所有人带来最大益处的策略。
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引用次数: 0
Plant pattern recognition receptors: from evolutionary insight to engineering 植物模式识别受体:从进化论到工程学
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-11-11 DOI: 10.1038/s41576-024-00793-z
Simon Snoeck, Oliver Johanndrees, Thorsten Nürnberger, Cyril Zipfel

The plant immune system relies on germline-encoded pattern recognition receptors (PRRs) that sense foreign and plant-derived molecular patterns, and signal health threats. Genomic and pangenomic data sets provide valuable insights into the evolution of PRRs and their molecular triggers, which is furthering our understanding of plant–pathogen co-evolution and convergent evolution. Moreover, in silico and in vivo methods of PRR identification have accelerated the characterization of receptor–ligand complexes, and advances in protein structure prediction algorithms are revealing novel PRR sensor functions. Harnessing these recent advances to engineer PRRs presents an opportunity to enhance plant disease resistance against a broad spectrum of pathogens, enabling more sustainable agricultural practices. This Review summarizes both established and innovative approaches to leverage genomic data and translate resulting evolutionary insights into engineering PRR recognition specificities.

植物免疫系统依靠种系编码的模式识别受体(PRRs)来感知外来和植物衍生的分子模式,并发出健康威胁信号。基因组和泛基因组数据集为 PRRs 及其分子触发器的进化提供了宝贵的见解,从而进一步加深了我们对植物-病原体共同进化和趋同进化的理解。此外,PRR 的硅学和体内鉴定方法加快了受体-配体复合物的表征,蛋白质结构预测算法的进步揭示了新的 PRR 传感器功能。利用这些最新进展对 PRRs 进行工程设计,为提高植物对各种病原体的抗病性提供了机会,从而实现更可持续的农业实践。本综述总结了利用基因组数据并将由此产生的进化见解转化为工程化 PRR 识别特异性的既有方法和创新方法。
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引用次数: 0
Genetic conflict and its resolution between the sexes 两性之间的基因冲突及其解决方法
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-11-06 DOI: 10.1038/s41576-024-00802-1
Abderrahman Khila
Abderrahman Khila highlights an important 2015 paper by Barson et al. that demonstrated how sexual conflict in Atlantic salmon affects genetic evolution.
Abderrahman Khila 重点介绍了 Barson 等人 2015 年发表的一篇重要论文,该论文证明了大西洋鲑鱼的性冲突如何影响基因进化。
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引用次数: 0
Exploring biodiversity through museomics 通过博物馆学探索生物多样性
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-11-06 DOI: 10.1038/s41576-024-00801-2
Charles C. Davis, Sandra Knapp
Natural history collections are unparalleled resources for studying biodiversity across multiple dimensions. As multi-omic tools are being applied to museum specimens, the emerging field of museomics is undergoing a rapid and exciting transformation, with new opportunities, challenges and confrontations with past legacies. In this Comment, the authors showcase how the emerging field of museomics — the application of multi-omic tools to natural history collections — is undergoing a rapid and exciting transformation, with new opportunities, challenges and confrontations with past legacies.
自然历史藏品是从多个维度研究生物多样性的无与伦比的资源。随着多组学工具在博物馆标本中的应用,博物馆组学这一新兴领域正在经历一场快速而令人兴奋的变革,同时也带来了新的机遇、挑战以及与过去遗产的对抗。在这篇评论中,作者展示了新兴的博物馆组学领域--多组学工具在自然历史藏品中的应用--是如何经历着一场快速而令人兴奋的变革,带来了新的机遇、挑战以及与过去遗产的对抗。
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引用次数: 0
The design and engineering of synthetic genomes 合成基因组的设计与工程
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-11-06 DOI: 10.1038/s41576-024-00786-y
Joshua S. James, Junbiao Dai, Wei Leong Chew, Yizhi Cai

Synthetic genomics seeks to design and construct entire genomes to mechanistically dissect fundamental questions of genome function and to engineer organisms for diverse applications, including bioproduction of high-value chemicals and biologics, advanced cell therapies, and stress-tolerant crops. Recent progress has been fuelled by advancements in DNA synthesis, assembly, delivery and editing. Computational innovations, such as the use of artificial intelligence to provide prediction of function, also provide increasing capabilities to guide synthetic genome design and construction. However, translating synthetic genome-scale projects from idea to implementation remains highly complex. Here, we aim to streamline this implementation process by comprehensively reviewing the strategies for design, construction, delivery, debugging and tailoring of synthetic genomes as well as their potential applications.

合成基因组学旨在设计和构建整个基因组,从机理上剖析基因组功能的基本问题,并为各种应用设计生物体,包括生物生产高价值化学品和生物制剂、先进的细胞疗法和抗逆作物。DNA 合成、组装、传输和编辑方面的进步推动了近期的进展。计算方面的创新,如利用人工智能进行功能预测,也为指导合成基因组的设计和构建提供了越来越强的能力。然而,将合成基因组规模的项目从想法转化为实施仍然非常复杂。在此,我们旨在通过全面回顾合成基因组的设计、构建、交付、调试和定制策略及其潜在应用,简化这一实施过程。
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引用次数: 0
Slide-tags enables spatial single-nucleus sequencing 滑动标签实现空间单核测序
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-11-04 DOI: 10.1038/s41576-024-00797-9
Andrew J. C. Russell
In this Tools of the Trade article, Andrew Russell describes Slide-tags, a method for scalable, spatially resolved single-nucleus sequencing.
在这篇 "贸易工具 "文章中,安德鲁-罗素(Andrew Russell)介绍了 Slide-tags 这种可扩展的空间分辨单核测序方法。
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引用次数: 0
The phenotypic consequences of enhancer evolution 增强子进化的表型后果
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-10-29 DOI: 10.1038/s41576-024-00800-3
Julie Jung, Thomas King
In this Journal Club, Julie Jung and Thomas King recount a paper by Chan et al. that identified the regulatory changes underlying recurrent phenotypic evolution in stickleback fish.
在本期 "期刊俱乐部 "中,朱莉-郑(Julie Jung)和托马斯-金(Thomas King)讲述了陈等人的一篇论文,该论文确定了棒背鱼表型反复进化背后的调控变化。
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引用次数: 0
Context-specific regulatory variants in precision medicine and agriculture 精准医疗和农业中针对具体情况的调控变体
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-10-29 DOI: 10.1038/s41576-024-00798-8
Lingzhao Fang
Lingzhao Fang recalls how a 2002 paper by Brem et al., which investigated the genetic basis of natural variation in gene expression in budding yeast, and the GTEx atlas of genetic regulatory effects across human tissues inspired the FarmGTEx project to accelerate precision agriculture.
方令钊回忆起 2002 年 Brem 等人发表的一篇研究芽殖酵母中基因表达自然变异的遗传基础的论文,以及 GTEx 图集对人体组织的遗传调控效应的研究,如何激发了 FarmGTEx 项目加速精准农业发展的灵感。
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引用次数: 0
Causal inference for epigenetic ageing 表观遗传老化的因果推理
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-10-29 DOI: 10.1038/s41576-024-00799-7
Kejun Ying
In this Tools of the Trade article, Kejun Ying describes epigenome-wide Mendelian randomization, which integrates Mendelian randomization into a DNA-methylation-based epigenetic clock to identify CpG sites with potential causal links to lifespan and healthspan.
在这篇 "贸易工具"(Tools of the Trade)文章中,Kejun Ying介绍了全表观基因组孟德尔随机化(epigenome-wide Mendelian randomization),该方法将孟德尔随机化与基于DNA甲基化的表观遗传时钟相结合,以鉴定与寿命和健康寿命有潜在因果关系的CpG位点。
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引用次数: 0
Cohesin and CTCF emerge as building blocks of 3D genome structure 凝聚素和 CTCF 成为三维基因组结构的基石
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-10-25 DOI: 10.1038/s41576-024-00795-x
Julia Horsfield
In this Journal Club, Julia Horsfield recounts two papers that demonstrated how cohesin and CTCF together organize the genome and regulate gene expression.
在本期 "期刊俱乐部 "中,茱莉亚-霍斯菲尔德(Julia Horsfield)讲述了两篇论文,这两篇论文展示了凝聚素和 CTCF 如何共同组织基因组并调控基因表达。
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引用次数: 0
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