Annual review of genomics and human genetics最新文献_第9页

The Yin and Yang of Histone Marks in Transcription. 转录中组蛋白标记的阴阳。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-03-29 DOI: 10.1146/annurev-genom-120220-085159

Paul B Talbert, Steven Henikoff

引用次数: 33

How Natural Genetic Variation Shapes Behavior. 自然遗传变异如何塑造行为。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-04-13 DOI: 10.1146/annurev-genom-111219-080427

Natalie Niepoth, Andres Bendesky

{"title":"How Natural Genetic Variation Shapes Behavior.","authors":"Natalie Niepoth, Andres Bendesky","doi":"10.1146/annurev-genom-111219-080427","DOIUrl":"https://doi.org/10.1146/annurev-genom-111219-080427","url":null,"abstract":"Nervous systems allow animals to acutely respond and behaviorally adapt to changes and recurring patterns in their environment at multiple timescales-from milliseconds to years. Behavior is further shaped at intergenerational timescales by genetic variation, drift, and selection. This sophistication and flexibility of behavior makes it challenging to measure behavior consistently in individual subjects and to compare it across individuals. In spite of these challenges, careful behavioral observations in nature and controlled measurements in the laboratory, combined with modern technologies and powerful genetic approaches, have led to important discoveries about the way genetic variation shapes behavior. A critical mass of genes whose variation is known to modulate behavior in nature is finally accumulating, allowing us to recognize emerging patterns. In this review, we first discuss genetic mapping approaches useful for studying behavior. We then survey how variation acts at different levels-in environmental sensation, in internal neuronal circuits, and outside the nervous system altogether-and then discuss the sources and types of molecular variation linked to behavior and the mechanisms that shape such variation. We end by discussing remaining questions in the field.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2020-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-111219-080427","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37830021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 30

Looking Beyond GINA: Policy Approaches to Address Genetic Discrimination. 超越GINA:解决基因歧视的政策方法。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-01-21 DOI: 10.1146/annurev-genom-111119-011436

Yann Joly, Charles Dupras, Miriam Pinkesz, Stacey A Tovino, Mark A Rothstein

{"title":"Looking Beyond GINA: Policy Approaches to Address Genetic Discrimination.","authors":"Yann Joly, Charles Dupras, Miriam Pinkesz, Stacey A Tovino, Mark A Rothstein","doi":"10.1146/annurev-genom-111119-011436","DOIUrl":"https://doi.org/10.1146/annurev-genom-111119-011436","url":null,"abstract":"Concerns about genetic discrimination (GD) often surface when discussing research and innovation in genetics. Over recent decades, countries around the world have attempted to address GD using various policy measures. In this article, we survey these approaches and provide a critical commentary on their advantages and disadvantages. Our examination begins with regions featuring extensive policy-making activities (North America and Europe), followed by regions with moderate policy-making activities (Australia, Asia, and South America) and regions with minimal policy-making activities (the Middle East and Africa). Our analysis then turns to emerging issues regarding genetic testing and GD, including the expansion of multiomics sciences and direct-to-consumer genetic tests outside the health context. We additionally survey the shortcomings of current normative approaches addressing GD. Finally, we conclude by highlighting the evolving nature of GD and the need for more innovative policy-making in this area.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2020-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-111119-011436","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37562229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 25

The Laminopathies and the Insights They Provide into the Structural and Functional Organization of the Nucleus. 椎板病及其对细胞核结构和功能组织的启示。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-05-19 DOI: 10.1146/annurev-genom-121219-083616

Xianrong Wong, Colin L Stewart

引用次数: 41

Cultivating DNA Sequencing Technology After the Human Genome Project. 人类基因组计划后培育DNA测序技术。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-04-13 DOI: 10.1146/annurev-genom-111919-082433

Jeffery A Schloss, Richard A Gibbs, Vinod B Makhijani, Andre Marziali

{"title":"Cultivating DNA Sequencing Technology After the Human Genome Project.","authors":"Jeffery A Schloss, Richard A Gibbs, Vinod B Makhijani, Andre Marziali","doi":"10.1146/annurev-genom-111919-082433","DOIUrl":"https://doi.org/10.1146/annurev-genom-111919-082433","url":null,"abstract":"When the Human Genome Project was completed in 2003, automated Sanger DNA sequencing with fluorescent dye labels was the dominant technology. Several nascent alternative methods based on older ideas that had not been fully developed were the focus of technical researchers and companies. Funding agencies recognized the dynamic nature of technology development and that, beyond the Human Genome Project, there were growing opportunities to deploy DNA sequencing in biological research. Consequently, the National Human Genome Research Institute of the National Institutes of Health created a program-widely known as the Advanced Sequencing Technology Program-that stimulated all stages of development of new DNA sequencing methods, from innovation to advanced manufacturing and production testing, with the goal of reducing the cost of sequencing a human genome first to $100,000 and then to $1,000. The events of this period provide a powerful example of how judicious funding of academic and commercial partners can rapidly advance core technology developments that lead to profound advances across the scientific landscape.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2020-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-111919-082433","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37829615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 18

Models of Technology Transfer for Genome-Editing Technologies. 基因组编辑技术的技术转移模型。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-03-09 DOI: 10.1146/annurev-genom-121119-100145

Gregory D Graff, Jacob S Sherkow

{"title":"Models of Technology Transfer for Genome-Editing Technologies.","authors":"Gregory D Graff, Jacob S Sherkow","doi":"10.1146/annurev-genom-121119-100145","DOIUrl":"https://doi.org/10.1146/annurev-genom-121119-100145","url":null,"abstract":"Many of the fundamental inventions of genome editing, including meganucleases, zinc finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs), and CRISPR, were first made at universities and patented to encourage commercial development. This gave rise to a diversity of technology transfer models but also conflicts among them. Against a broader historical and policy backdrop of university patenting and special challenges concerning research tools, we review the patent estates of genome editing and the diversity of technology transfer models employed to commercialize them, including deposit in the public domain, open access contracts, material transfer agreements, nonexclusive and exclusive licenses, surrogate licenses, and aggregated licenses. Advantages are found in this diversity, allowing experimentation and competition that we characterize as a federalism model of technology transfer. A notable feature of genome editing has been the rise and success of third-party licensing intermediaries. At the same time, the rapid pace of development of genome-editing technology is likely to erode the importance of patent estates and licensing regimes and may mitigate the effect of overly broad patents, giving rise to new substitutes to effectuate commercialization.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2020-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-121119-100145","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37720065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 7

Credit for and Control of Research Outputs in Genomic Citizen Science. 基因组公民科学研究成果的信用和控制。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 DOI: 10.1146/annurev-genom-083117-021812

Christi J Guerrini, Jorge L Contreras

{"title":"Credit for and Control of Research Outputs in Genomic Citizen Science.","authors":"Christi J Guerrini, Jorge L Contreras","doi":"10.1146/annurev-genom-083117-021812","DOIUrl":"https://doi.org/10.1146/annurev-genom-083117-021812","url":null,"abstract":"Citizen science encompasses activities with scientific objectives in which members of the public participate as more than passive research subjects from whom personal data or biospecimens are collected and analyzed by others. Citizen science is increasingly common in the biomedical sciences, including the fields of genetics and human genomics. Genomic citizen science initiatives are diverse and involve citizen scientists in collecting genetic data, solving genetic puzzles, and conducting experiments in community laboratories. At the same time that genomic citizen science is presenting new opportunities for individuals to participate in scientific discovery, it is also challenging norms regarding the manner in which scientific research outputs are managed. In this review, we present a typology of genomic citizen science initiatives, describe ethical and legal foundations for recognizing genomic citizen scientists' claims of credit for and control of research outputs, and detail how such claims are or might be addressed in practice across a variety of initiatives.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2020-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083117-021812","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38333528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 5

Recent Advances in Understanding the Genetic Architecture of Autism. 自闭症基因结构的最新研究进展。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-05-12 DOI: 10.1146/annurev-genom-121219-082309

Caroline M Dias, Christopher A Walsh

{"title":"Recent Advances in Understanding the Genetic Architecture of Autism.","authors":"Caroline M Dias, Christopher A Walsh","doi":"10.1146/annurev-genom-121219-082309","DOIUrl":"https://doi.org/10.1146/annurev-genom-121219-082309","url":null,"abstract":"Recent advances in understanding the genetic architecture of autism spectrum disorder have allowed for unprecedented insight into its biological underpinnings. New studies have elucidated the contributions of a variety of forms of genetic variation to autism susceptibility. While the roles of de novo copy number variants and single-nucleotide variants-causing loss-of-function or missense changes-have been increasingly recognized and refined, mosaic single-nucleotide variants have been implicated more recently in some cases. Moreover, inherited variants (including common variants) and, more recently, rare recessive inherited variants have come into greater focus. Finally, noncoding variants-both inherited and de novo-have been implicated in the last few years. This work has revealed a convergence of diverse genetic drivers on common biological pathways and has highlighted the ongoing importance of increasing sample size and experimental innovation. Continuing to synthesize these genetic findings with functional and phenotypic evidence and translating these discoveries to clinical care remain considerable challenges for the field.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2020-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-121219-082309","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37924408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 25

RNA Conformation Capture by Proximity Ligation. 近距离连接法捕获RNA构象。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-04-22 DOI: 10.1146/annurev-genom-120219-073756

Grzegorz Kudla, Yue Wan, Aleksandra Helwak

引用次数: 19

The Genomics and Genetics of Oxygen Homeostasis. 氧稳态的基因组学和遗传学。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-04-07 DOI: 10.1146/annurev-genom-111119-073356

Gregg L Semenza

引用次数: 50