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  • 1.

    【2hr】Genomic advancement: Aiming to affirm and improve human life

    包量

    机译 基因组学的进步：旨在肯定和改善人类生活
    摘要：
  • 2.

    【2hr】Wheat quality improvement at CIMMYT and the use of genomic selection on it

    包量

    机译 CIMMYT小麦品质改良及其基因组选择的应用
    摘要：The International Center for Maize and Wheat Improvement (CIMMYT) leads the Global Wheat Program, whose main objective is to increase the productivity of wheat cropping systems to reduce poverty in developing countries. The priorities of the program are high grain yield, disease resistance, tolerance to abiotic stresses (drought and heat), and desirable quality. The Wheat Chemistry and Quality Laboratory has been continuously evolving to be able to analyze the largest number of samples possible, in the shortest time, at lowest cost, in order to deliver data on diverse quality traits on time to the breeders for making selections for advancement in the breeding pipeline. The participation of wheat quality analysis/selection is carried out in two stages of the breeding process: evaluation of the parental lines for new crosses and advanced lines in preliminary and elite yield trials. Thousands of lines are analyzed which requires a big investment in resources. Genomic selection has been proposed to assist in selecting for quality and other traits in breeding programs. Genomic selection can predict quantitative traits and is applicable to multiple quantitative traits in a breeding pipeline by attaining historical phenotypes and adding high-density genotypic information. Due to advances in sequencing technology, genome-wide single nucleotide polymorphism markers are available through genotyping-by-sequencing at a cost conducive to application for genomic selection. At CIMMYT, genomic selection has been applied to predict all of the processing and end-use quality traits regularly tested in the spring wheat breeding program. These traits have variable levels of prediction accuracy, however, they demonstrated that most expensive traits, dough rheology and baking final product, can be predicted with a high degree of confidence. Currently it is being explored how to combine both phenotypic and genomic selection to make more efficient the genetic improvement for quality traits at CIMMYT spring wheat breeding program.
  • 3.

    【2hr】Maximizing the potential of multi-parental crop populations

    包量

    机译 最大限度地发挥多亲作物的潜力
    摘要：Most agriculturally significant crop traits are quantitatively inherited which limits the ease and efficiency of trait dissection. Multi-parent populations overcome the limitations of traditional trait mapping and offer new potential to accurately define the genetic basis of complex crop traits. The increasing popularity and use of nested association mapping (NAM) and multi-parent advanced generation intercross (MAGIC) populations raises questions about the optimal design and allocation of resources in their creation. In this paper we review strategies for the creation of multi-parent populations and describe two complementary in silico studies addressing the design and construction of NAM and MAGIC populations. The first simulates the selection of diverse founder parents and the second the influence of multi-parent crossing schemes (and number of founders) on haplotype creation and diversity. We present and apply two open software resources to simulate alternate strategies for the development of multi-parent populations.
  • 4.

    【2hr】Developing integrated crop knowledge networks to advance candidate gene discovery

    包量

    机译 开发综合作物知识网络以促进候选基因的发现
    摘要：The chances of raising crop productivity to enhance global food security would be greatly improved if we had a complete understanding of all the biological mechanisms that underpinned traits such as crop yield, disease resistance or nutrient and water use efficiency. With more crop genomes emerging all the time, we are nearer having the basic information, at the gene-level, to begin assembling crop gene catalogues and using data from other plant species to understand how the genes function and how their interactions govern crop development and physiology. Unfortunately, the task of creating such a complete knowledge base of gene functions, interaction networks and trait biology is technically challenging because the relevant data are dispersed in myriad databases in a variety of data formats with variable quality and coverage. In this paper we present a general approach for building genome-scale knowledge networks that provide a unified representation of heterogeneous but interconnected datasets to enable effective knowledge mining and gene discovery. We describe the datasets and outline the methods, workflows and tools that we have developed for creating and visualising these networks for the major crop species, wheat and barley. We present the global characteristics of such knowledge networks and with an example linking a seed size phenotype to a barley WRKY transcription factor orthologous to TTG2 from Arabidopsis, we illustrate the value of integrated data in biological knowledge discovery. The software we have developed () and the knowledge resources ( we have created are all open-source and provide a first step towards systematic and evidence-based gene discovery in order to facilitate crop improvement.
  • 5.

    【2hr】Uncertainty and innovation: Understanding the role of cell-based manufacturing facilities in shaping regulatory and commercialization environments

    包量

    机译 不确定性和创新：了解基于单元的制造设施在塑造监管和商业化环境中的作用
    摘要：The purpose of this qualitative study is to elucidate stakeholder perceptions of, and institutional practices related to cell-based therapies and products (CTP) regulation and commercialization in Canada. The development of reproducible, safe and effective CTPs is predicated on regulatory and commercialization environments that enable innovation. Manufacturing processes constitute a critical step for CTP development in this regard. The road from CTP manufacturing to translation in the clinic, however, has yet to be paved. This study aims to fill an empirical gap in the literature by exploring how CTP manufacturing facilities navigate Canadian regulatory and commercialization environments, which together drive the translation of novel CTPs from bench to bedside. Using the multi-level model of practice-driven institutional change proposed by Smets et al., we demonstrate how CTP manufacturing practices are governed by established standards, yet meaningfully shape higher-order regulatory and commercial norms in CTP research and development. We identify four key themes that undergird such processes of innovation: 1) managing regulatory uncertainty, which stems from an inability to classify CTPs within existing regulatory categories for approval and commercialization purposes; 2) building a ‘business case’ whereby a CTP's market potential is determined in large part by proving its safety and effectiveness; 3) standardizing manufacturing procedures that mobilize CTPs from a research and development phase to a commercialization one; and 4) networking between researchers and regulators to develop responsible commercialization processes that reflect the uniqueness of CTPs as distinct from other biologics and medical devices.
  • 6.

    【2hr】Mitochondrial transfer: Implications for assisted reproductive technologies

    包量

    机译 线粒体转移：对辅助生殖技术的影响
    摘要：The use of mitochondrial transfer as a clinic procedure is drawing closer to reality. Here we provide a detailed overview of mitochondrial transfer techniques – both established and recent – including pronuclear, spindle, ooplasmic and blastomere transfer. Reasons as to why some techniques are more suitable for the prevention of mitochondrial DNA disease than others, as well as the advantages and disadvantages of each methodology, are discussed. The possible clinical introduction of these techniques has raised concerns about the adverse effects they may have on resultant embryos and offspring. Success rates of each technique, embryo viability and developmental consequences post mitochondrial transfer are addressed through analysis of evidence obtained from both animal and human studies. Counterarguments against potential mitochondrial-nuclear genome incompatibility are also provided. Additional clinical applications of mitochondrial transfer techniques are discussed. These include the rescue or enhancement of fertility in women of advanced maternal age or those suffering from diabetes. An alternative to using mitochondrial DNA transfer for germ line therapies is the therapeutic use of somatic cell nuclear transfer for the generation of personalised stem cells. Although ethically challenging, this method could offer patients already suffering from mitochondrial DNA diseases a novel treatment option.
  • 7.

    【2hr】Translating genetics beyond bench and bedside: A comparative perspective on health care infrastructures for ‘familial’ breast cancer

    包量

    机译 将遗传学转化为工作台和床边以外的内容：“家族性”乳腺癌医疗基础设施的比较观点
    • 作者：Erik Aarden
    • 刊名：Applied Translational Genomics
    • 2016年第期
    摘要：Developments in genomics research are considered to have great potential for improving health care – making genomics an urgent site for translational efforts. Yet while much emphasis is put on the technical challenges of translation, there is less scholarly attention for the social infrastructures through which novel medical interventions may be delivered to patient populations. Reflecting the idea that cancer is at the frontier of genomic applications in health care, this paper explores how the assessment of familial breast cancer risks was ‘translated’ into routine health care in Germany, the Netherlands and the United Kingdom. The paper identifies regulation, institutionalization and standardization as key mechanisms of translation that find distinct expression in particular sociocultural contexts and shape both the social and technical making of genomics into routine clinical practice. Translation is therefore an area of social as well as technical concern, and therefore requires collective decision-making.
  • 8.

    【2hr】Omics challenges and unmet translational needs

    包量

    机译 组学挑战和未满足的翻译需求
    摘要：
  • 9.

    【2hr】Standardization and quality management in next-generation sequencing

    包量

    机译 下一代测序中的标准化和质量管理
    摘要：DNA sequencing continues to evolve quickly even after > 30 years. Many new platforms suddenly appeared and former established systems have vanished in almost the same manner. Since establishment of next-generation sequencing devices, this progress gains momentum due to the continually growing demand for higher throughput, lower costs and better quality of data. In consequence of this rapid development, standardized procedures and data formats as well as comprehensive quality management considerations are still scarce. Here, we listed and summarized current standardization efforts and quality management initiatives from companies, organizations and societies in form of published studies and ongoing projects. These comprise on the one hand quality documentation issues like technical notes, accreditation checklists and guidelines for validation of sequencing workflows. On the other hand, general standard proposals and quality metrics are developed and applied to the sequencing workflow steps with the main focus on upstream processes. Finally, certain standard developments for downstream pipeline data handling, processing and storage are discussed in brief. These standardization approaches represent a first basis for continuing work in order to prospectively implement next-generation sequencing in important areas such as clinical diagnostics, where reliable results and fast processing is crucial. Additionally, these efforts will exert a decisive influence on traceability and reproducibility of sequence data.
  • 10.

    【2hr】Metabolic modeling with Big Data and the gut microbiome

    包量

    机译 大数据和肠道微生物组的代谢建模
    摘要：The recent advances in high-throughput omics technologies have enabled researchers to explore the intricacies of the human microbiome. On the clinical front, the gut microbial community has been the focus of many biomarker-discovery studies. While the recent deluge of high-throughput data in microbiome research has been vastly informative and groundbreaking, we have yet to capture the full potential of omics-based approaches. Realizing the promise of multi-omics data will require integration of disparate omics data, as well as a biologically relevant, mechanistic framework – or metabolic model – on which to overlay these data. Also, a new paradigm for metabolic model evaluation is necessary. Herein, we outline the need for multi-omics data integration, as well as the accompanying challenges. Furthermore, we present a framework for characterizing the ecology of the gut microbiome based on metabolic network modeling.
  • 11.

    【2hr】A systems approach to personalised nutrition: Report on the Keystone Symposium “Human Nutrition, Environment and Health”

    包量

    机译 个性化营养的系统方法：Keystone研讨会“人类营养，环境与健康”报告
    摘要：
  • 12.

    【2hr】Barriers to clinical adoption of next generation sequencing: Perspectives of a policy Delphi panel

    包量

    机译 下一代测序临床采用的障碍：Delphi政策小组的观点
    摘要：This research aims to inform policymakers by engaging expert stakeholders to identify, prioritize, and deliberate the most important and tractable policy barriers to the clinical adoption of next generation sequencing (NGS). A 4-round Delphi policy study was done with a multi-stakeholder panel of 48 experts. The first 2 rounds of online questionnaires (reported here) assessed the importance and tractability of 28 potential barriers to clinical adoption of NGS across 3 major policy domains: intellectual property, coverage and reimbursement, and FDA regulation. We found that: 1) proprietary variant databases are seen as a key challenge, and a potentially intractable one; 2) payer policies were seen as a frequent barrier, especially a perceived inconsistency in standards for coverage; 3) relative to other challenges considered, FDA regulation was not strongly perceived as a barrier to clinical use of NGS. Overall the results indicate a perceived need for policies to promote data-sharing, and a desire for consistent payer coverage policies that maintain reasonably high standards of evidence for clinical utility, limit testing to that needed for clinical care decisions, and yet also flexibly allow for clinician discretion to use genomic testing in uncertain circumstances of high medical need.
  • 13.

    【2hr】Personal genomics: Where are we now?

    包量

    机译 个人基因组学：我们现在在哪里？
    • 作者：Misha Angrist
    • 刊名：Applied Translational Genomics
    • 2016年第期
    摘要：
  • 14.

    【2hr】Beyond clinical utility: The multiple values of DTC genetics

    包量

    机译 超越临床用途：DTC遗传学的多重价值
    摘要：One point of consensus in the otherwise very controversial discussion about the benefits and dangers of DTC genetics in the health domain is the lack of substantial clinical utility. At the same time, both the empirical and conceptual literature indicate that health-related DTC tests can have value and utility outside of the clinic. We argue that a broader and multi-faceted conceptualization of utility and value would enrich the ethical and social discussion of DTC testing in several ways: First, looking at ways in which DTC testing can have personal and social value for users – in the form of entertainment, learning, or a way to relate to others – can help to explain why people still take DTC tests, and will, further down the line, foster a more nuanced understanding of secondary and tertiary uses of DTC test results (which could very well unearth new ethical and regulatory challenges). Second, considering the economic value and broader utility of DTC testing foregrounds wider social and political aspects than have been dominant in the ethical and regulatory debates surrounding DTC genetics so far. These wider political aspects include the profound power asymmetries that characterize the collection and use of personal genetic data in many contexts.
  • 15.

    【2hr】Attitudes towards personal genomics among older Swiss adults: An exploratory study

    包量

    机译 瑞士老年人对个人基因组学的态度：一项探索性研究
    摘要：ObjectivesTo explore attitudes of Swiss older adults towards personal genomics (PG).
  • 16.

    【2hr】‘Only a click away — DTC genetics for ancestry, health, love…and more: A view of the business and regulatory landscape’

    包量

    机译 “只需点击一下，即可获得有关祖先，健康，爱情等的DTC遗传学：对业务和监管环境的看法”
    摘要：I provide an overview of the current state of the direct-to-consumer (DTC) genetic testing industry and the challenges that different types of testing pose for regulation. I consider the variety of services currently available. These range from health and ancestry tests to those for child talent, paternity, and infidelity. In light of the increasingly blurred lines among different categories of testing, I call for a broader discussion of DTC governance. I stress the importance of shifting our attention from the activities of the most prominent companies to viewing DTC genetics as an industry with a wide spectrum of services and raising a wide variety of issues. These issues go beyond questions of clinical utility and validity to those of data security, personal identity, race, and the nature of the family. Robust DTC testing has the power to provide meaningful clinical, genealogical and even forensic information to those who want it; in unscrupulous hands, however, it also has the power to deceive and exploit. I consider approaches to help ensure the former and minimize the latter.
  • 17.

    【2hr】Ethical issues in consumer genome sequencing: Use of consumers' samples and data

    包量

    机译 消费者基因组测序中的伦理问题：消费者样品和数据的使用
    摘要：High throughput approaches such as whole genome sequencing (WGS) and whole exome sequencing (WES) create an unprecedented amount of data providing powerful resources for clinical care and research. Recently, WGS and WES services have been made available by commercial direct-to-consumer (DTC) companies. The DTC offer of genetic testing (GT) has already brought attention to potentially problematic issues such as the adequacy of consumers' informed consent and transparency of companies' research activities. In this study, we analysed the websites of four DTC GT companies offering WGS and/or WES with regard to their policies governing storage and future use of consumers' data and samples. The results are discussed in relation to recommendations and guiding principles such as the “Statement of the European Society of Human Genetics on DTC GT for health-related purposes” (2010) and the “Framework for responsible sharing of genomic and health-related data” (Global Alliance for Genomics and Health, 2014). The analysis reveals that some companies may store and use consumers' samples or sequencing data for unspecified research and share the data with third parties. Moreover, the companies do not provide sufficient or clear information to consumers about this, which can undermine the validity of the consent process. Furthermore, while all companies state that they provide privacy safeguards for data and mention the limitations of these, information about the possibility of re-identification is lacking. Finally, although the companies that may conduct research do include information regarding proprietary claims and commercialisation of the results, it is not clear whether consumers are aware of the consequences of these policies. These results indicate that DTC GT companies still need to improve the transparency regarding handling of consumers' samples and data, including having an explicit and clear consent process for research activities.
  • 18.

    【2hr】Exomes for we but not for thee

    包量

    机译 外显子适合我们，但不适合您
    • 作者：Anonymous
    • 刊名：Applied Translational Genomics
    • 2016年第期
    摘要：
  • 19.

    【2hr】How Geisinger made the case for an institutional duty to return genomic results to biobank participants

    包量

    机译 Geisinger如何提出将基因组结果返还给生物库参与者的机构责任
    摘要：
  • 20.

    【2hr】An old problem in a new age: Revisiting the clinical dilemma of misattributed paternity

    包量

    机译 新时代的一个老问题：重新认识亲子鉴定错误的临床困境
    摘要：Clinical genetics has wrestled with the problem of misattributed paternity for decades. While there are no clear directives on policy, surveys suggest that genetics professionals are inclined to avoid disclosure when possible. Changes associated with the increased use of genomic testing will alter the context and may limit the benefits of non-disclosure. Multi-site testing will preclude the uncertainty often associated with single-gene testing. Increased use of genetic testing in clinical and non-clinical settings will create new opportunities for the subsequent unmasking of misattributed relationships, as will the presence of test results in the electronic medical record. Family health history information will become more valuable as it is used more often and to better effect in risk assessment, diagnosis, treatment and reproductive decision-making. These changes associated with genomic testing increase the risks and decrease the benefits associated with the nondisclosure of misattributed paternity. For ethical and practical reasons, genetics professionals, and those who advise them, should consider a greater emphasis on the value of carefully planned disclosure.
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