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Sample records for genome research project

  1. A comprehensive crop genome research project: the Superhybrid Rice Genome Project in China.

    Yu, Jun; Wong, Gane Ka-Shu; Liu, Siqi; Wang, Jian; Yang, Huanming

    2007-06-29

    In May 2000, the Beijing Institute of Genomics formally announced the launch of a comprehensive crop genome research project on rice genomics, the Chinese Superhybrid Rice Genome Project. SRGP is not simply a sequencing project targeted to a single rice (Oryza sativa L.) genome, but a full-swing research effort with an ultimate goal of providing inclusive basic genomic information and molecular tools not only to understand biology of the rice, both as an important crop species and a model organism of cereals, but also to focus on a popular superhybrid rice landrace, LYP9. We have completed the first phase of SRGP and provide the rice research community with a finished genome sequence of an indica variety, 93-11 (the paternal cultivar of LYP9), together with ample data on subspecific (between subspecies) polymorphisms, transcriptomes and proteomes, useful for within-species comparative studies. In the second phase, we have acquired the genome sequence of the maternal cultivar, PA64S, together with the detailed catalogues of genes uniquely expressed in the parental cultivars and the hybrid as well as allele-specific markers that distinguish parental alleles. Although SRGP in China is not an open-ended research programme, it has been designed to pave a way for future plant genomics research and application, such as to interrogate fundamentals of plant biology, including genome duplication, polyploidy and hybrid vigour, as well as to provide genetic tools for crop breeding and to carry along a social burden-leading a fight against the world's hunger. It began with genomics, the newly developed and industry-scale research field, and from the world's most populous country. In this review, we summarize our scientific goals and noteworthy discoveries that exploit new territories of systematic investigations on basic and applied biology of rice and other major cereal crops.

  2. Harvard Personal Genome Project: lessons from participatory public research

    2014-01-01

    Background Since its initiation in 2005, the Harvard Personal Genome Project has enrolled thousands of volunteers interested in publicly sharing their genome, health and trait data. Because these data are highly identifiable, we use an ‘open consent’ framework that purposefully excludes promises about privacy and requires participants to demonstrate comprehension prior to enrollment. Discussion Our model of non-anonymous, public genomes has led us to a highly participatory model of researcher-participant communication and interaction. The participants, who are highly committed volunteers, self-pursue and donate research-relevant datasets, and are actively engaged in conversations with both our staff and other Personal Genome Project participants. We have quantitatively assessed these communications and donations, and report our experiences with returning research-grade whole genome data to participants. We also observe some of the community growth and discussion that has occurred related to our project. Summary We find that public non-anonymous data is valuable and leads to a participatory research model, which we encourage others to consider. The implementation of this model is greatly facilitated by web-based tools and methods and participant education. Project results are long-term proactive participant involvement and the growth of a community that benefits both researchers and participants. PMID:24713084

  3. Harvard Personal Genome Project: lessons from participatory public research.

    Ball, Madeleine P; Bobe, Jason R; Chou, Michael F; Clegg, Tom; Estep, Preston W; Lunshof, Jeantine E; Vandewege, Ward; Zaranek, Alexander; Church, George M

    2014-02-28

    Since its initiation in 2005, the Harvard Personal Genome Project has enrolled thousands of volunteers interested in publicly sharing their genome, health and trait data. Because these data are highly identifiable, we use an 'open consent' framework that purposefully excludes promises about privacy and requires participants to demonstrate comprehension prior to enrollment. Our model of non-anonymous, public genomes has led us to a highly participatory model of researcher-participant communication and interaction. The participants, who are highly committed volunteers, self-pursue and donate research-relevant datasets, and are actively engaged in conversations with both our staff and other Personal Genome Project participants. We have quantitatively assessed these communications and donations, and report our experiences with returning research-grade whole genome data to participants. We also observe some of the community growth and discussion that has occurred related to our project. We find that public non-anonymous data is valuable and leads to a participatory research model, which we encourage others to consider. The implementation of this model is greatly facilitated by web-based tools and methods and participant education. Project results are long-term proactive participant involvement and the growth of a community that benefits both researchers and participants.

  4. Ethical considerations of research policy for personal genome analysis: the approach of the Genome Science Project in Japan.

    Minari, Jusaku; Shirai, Tetsuya; Kato, Kazuto

    2014-12-01

    As evidenced by high-throughput sequencers, genomic technologies have recently undergone radical advances. These technologies enable comprehensive sequencing of personal genomes considerably more efficiently and less expensively than heretofore. These developments present a challenge to the conventional framework of biomedical ethics; under these changing circumstances, each research project has to develop a pragmatic research policy. Based on the experience with a new large-scale project-the Genome Science Project-this article presents a novel approach to conducting a specific policy for personal genome research in the Japanese context. In creating an original informed-consent form template for the project, we present a two-tiered process: making the draft of the template following an analysis of national and international policies; refining the draft template in conjunction with genome project researchers for practical application. Through practical use of the template, we have gained valuable experience in addressing challenges in the ethical review process, such as the importance of sharing details of the latest developments in genomics with members of research ethics committees. We discuss certain limitations of the conventional concept of informed consent and its governance system and suggest the potential of an alternative process using information technology.

  5. The human genome project

    Worton, R.

    1996-01-01

    The Human Genome Project is a massive international research project, costing 3 to 5 billion dollars and expected to take 15 years, which will identify the all the genes in the human genome - i.e. the complete sequence of bases in human DNA. The prize will be the ability to identify genes causing or predisposing to disease, and in some cases the development of gene therapy, but this new knowledge will raise important ethical issues

  6. RadGenomics project

    Iwakawa, Mayumi; Imai, Takashi; Harada, Yoshinobu [National Inst. of Radiological Sciences, Chiba (Japan). Frontier Research Center] [and others

    2002-06-01

    Human health is determined by a complex interplay of factors, predominantly between genetic susceptibility, environmental conditions and aging. The ultimate aim of the RadGenomics (Radiation Genomics) project is to understand the implications of heterogeneity in responses to ionizing radiation arising from genetic variation between individuals in the human population. The rapid progression of the human genome sequencing and the recent development of new technologies in molecular genetics are providing us with new opportunities to understand the genetic basis of individual differences in susceptibility to natural and/or artificial environmental factors, including radiation exposure. The RadGenomics project will inevitably lead to improved protocols for personalized radiotherapy and reductions in the potential side effects of such treatment. The project will contribute to future research into the molecular mechanisms of radiation sensitivity in humans and will stimulate the development of new high-throughput technologies for a broader application of biological and medical sciences. The staff members are specialists in a variety of fields, including genome science, radiation biology, medical science, molecular biology, and informatics, and have joined the RadGenomics project from various universities, companies, and research institutes. The project started in April 2001. (author)

  7. RadGenomics project

    Iwakawa, Mayumi; Imai, Takashi; Harada, Yoshinobu

    2002-01-01

    Human health is determined by a complex interplay of factors, predominantly between genetic susceptibility, environmental conditions and aging. The ultimate aim of the RadGenomics (Radiation Genomics) project is to understand the implications of heterogeneity in responses to ionizing radiation arising from genetic variation between individuals in the human population. The rapid progression of the human genome sequencing and the recent development of new technologies in molecular genetics are providing us with new opportunities to understand the genetic basis of individual differences in susceptibility to natural and/or artificial environmental factors, including radiation exposure. The RadGenomics project will inevitably lead to improved protocols for personalized radiotherapy and reductions in the potential side effects of such treatment. The project will contribute to future research into the molecular mechanisms of radiation sensitivity in humans and will stimulate the development of new high-throughput technologies for a broader application of biological and medical sciences. The staff members are specialists in a variety of fields, including genome science, radiation biology, medical science, molecular biology, and informatics, and have joined the RadGenomics project from various universities, companies, and research institutes. The project started in April 2001. (author)

  8. The 1000 Genomes Project: new opportunities for research and social challenges

    2010-01-01

    The 1000 Genomes Project, an international collaboration, is sequencing the whole genome of approximately 2,000 individuals from different worldwide populations. The central goal of this project is to describe most of the genetic variation that occurs at a population frequency greater than 1%. The results of this project will allow scientists to identify genetic variation at an unprecedented degree of resolution and will also help improve the imputation methods for determining unobserved genetic variants that are not represented on current genotyping arrays. By identifying novel or rare functional genetic variants, researchers will be able to pinpoint disease-causing genes in genomic regions initially identified by association studies. This level of detailed sequence information will also improve our knowledge of the evolutionary processes and the genomic patterns that have shaped the human species as we know it today. The new data will also lay the foundation for future clinical applications, such as prediction of disease susceptibility and drug response. However, the forthcoming availability of whole genome sequences at affordable prices will raise ethical concerns and pose potential threats to individual privacy. Nevertheless, we believe that these potential risks are outweighed by the benefits in terms of diagnosis and research, so long as rigorous safeguards are kept in place through legislation that prevents discrimination on the basis of the results of genetic testing. PMID:20193048

  9. Genomic research in Eucalyptus.

    Poke, Fiona S; Vaillancourt, René E; Potts, Brad M; Reid, James B

    2005-09-01

    Eucalyptus L'Hérit. is a genus comprised of more than 700 species that is of vital importance ecologically to Australia and to the forestry industry world-wide, being grown in plantations for the production of solid wood products as well as pulp for paper. With the sequencing of the genomes of Arabidopsis thaliana and Oryza sativa and the recent completion of the first tree genome sequence, Populus trichocarpa, attention has turned to the current status of genomic research in Eucalyptus. For several eucalypt species, large segregating families have been established, high-resolution genetic maps constructed and large EST databases generated. Collaborative efforts have been initiated for the integration of diverse genomic projects and will provide the framework for future research including exploiting the sequence of the entire eucalypt genome which is currently being sequenced. This review summarises the current position of genomic research in Eucalyptus and discusses the direction of future research.

  10. National Human Genome Research Institute

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  11. Human Genome Project

    Block, S. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Cornwall, J. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Dally, W. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Dyson, F. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Fortson, N. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Joyce, G. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Kimble, H. J. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Lewis, N. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Max, C. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Prince, T. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Schwitters, R. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Weinberger, P. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Woodin, W. H. [The MITRE Corporation, McLean, VA (US). JASON Program Office

    1998-01-04

    The study reviews Department of Energy supported aspects of the United States Human Genome Project, the joint National Institutes of Health/Department of Energy program to characterize all human genetic material, to discover the set of human genes, and to render them accessible for further biological study. The study concentrates on issues of technology, quality assurance/control, and informatics relevant to current effort on the genome project and needs beyond it. Recommendations are presented on areas of the genome program that are of particular interest to and supported by the Department of Energy.

  12. All about the Human Genome Project (HGP)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  13. The Pediatric Cancer Genome Project

    Downing, James R; Wilson, Richard K; Zhang, Jinghui; Mardis, Elaine R; Pui, Ching-Hon; Ding, Li; Ley, Timothy J; Evans, William E

    2013-01-01

    The St. Jude Children’s Research Hospital–Washington University Pediatric Cancer Genome Project (PCGP) is participating in the international effort to identify somatic mutations that drive cancer. These cancer genome sequencing efforts will not only yield an unparalleled view of the altered signaling pathways in cancer but should also identify new targets against which novel therapeutics can be developed. Although these projects are still deep in the phase of generating primary DNA sequence data, important results are emerging and valuable community resources are being generated that should catalyze future cancer research. We describe here the rationale for conducting the PCGP, present some of the early results of this project and discuss the major lessons learned and how these will affect the application of genomic sequencing in the clinic. PMID:22641210

  14. Genomic research perspectives in Kazakhstan

    Ainur Akilzhanova

    2014-01-01

    Full Text Available Introduction: Technological advancements rapidly propel the field of genome research. Advances in genetics and genomics such as the sequence of the human genome, the human haplotype map, open access databases, cheaper genotyping and chemical genomics, have transformed basic and translational biomedical research. Several projects in the field of genomic and personalized medicine have been conducted at the Center for Life Sciences in Nazarbayev University. The prioritized areas of research include: genomics of multifactorial diseases, cancer genomics, bioinformatics, genetics of infectious diseases and population genomics. At present, DNA-based risk assessment for common complex diseases, application of molecular signatures for cancer diagnosis and prognosis, genome-guided therapy, and dose selection of therapeutic drugs are the important issues in personalized medicine. Results: To further develop genomic and biomedical projects at Center for Life Sciences, the development of bioinformatics research and infrastructure and the establishment of new collaborations in the field are essential. Widespread use of genetic tools will allow the identification of diseases before the onset of clinical symptoms, the individualization of drug treatment, and could induce individual behavioral changes on the basis of calculated disease risk. However, many challenges remain for the successful translation of genomic knowledge and technologies into health advances, such as medicines and diagnostics. It is important to integrate research and education in the fields of genomics, personalized medicine, and bioinformatics, which will be possible with opening of the new Medical Faculty at Nazarbayev University. People in practice and training need to be educated about the key concepts of genomics and engaged so they can effectively apply their knowledge in a matter that will bring the era of genomic medicine to patient care. This requires the development of well

  15. The human genome project and novel aspects of cytochrome P450 research

    Ingelman-Sundberg, Magnus

    2005-01-01

    Currently, 57 active cytochrome P450 (CYP) genes and 58 pseudogenes are known to be present in the human genome. Among the genes discovered by initiatives in the human genome project are CYP2R1, CYP2W1, CYP2S1, CYP2U1 and CYP3A43, the latter apparently encoding a pseudoenzyme. The function, polymorphism and regulation of these genes are still to be discovered to a great extent. The polymorphism of drug metabolizing CYPs is extensive and influences the outcome of drug therapy causing lack of response or adverse drug reactions. The basis for the differences in the global distribution of the polymorphic variants is inactivating gene mutations and subsequent genetic drift. However, polymorphic alleles carrying multiple active gene copies also exist and are suggested in case of CYP2D6 to be caused by positive selection due to development of alkaloid resistance in North East Africa about 10,000-5000 BC. The knowledge about the CYP genes and their polymorphisms is of fundamental importance for effective drug therapy and for drug development as well as for understanding metabolic activation of carcinogens and other xenobiotics. Here, a short review of the current knowledge is given

  16. A locally funded Puerto Rican parrot (Amazona vittata genome sequencing project increases avian data and advances young researcher education

    Oleksyk Taras K

    2012-09-01

    Full Text Available Abstract Background Amazona vittata is a critically endangered Puerto Rican endemic bird, the only surviving native parrot species in the United States territory, and the first parrot in the large Neotropical genus Amazona, to be studied on a genomic scale. Findings In a unique community-based funded project, DNA from an A. vittata female was sequenced using a HiSeq Illumina platform, resulting in a total of ~42.5 billion nucleotide bases. This provided approximately 26.89x average coverage depth at the completion of this funding phase. Filtering followed by assembly resulted in 259,423 contigs (N50 = 6,983 bp, longest = 75,003 bp, which was further scaffolded into 148,255 fragments (N50 = 19,470, longest = 206,462 bp. This provided ~76% coverage of the genome based on an estimated size of 1.58 Gb. The assembled scaffolds allowed basic genomic annotation and comparative analyses with other available avian whole-genome sequences. Conclusions The current data represents the first genomic information from and work carried out with a unique source of funding. This analysis further provides a means for directed training of young researchers in genetic and bioinformatics analyses and will facilitate progress towards a full assembly and annotation of the Puerto Rican parrot genome. It also adds extensive genomic data to a new branch of the avian tree, making it useful for comparative analyses with other avian species. Ultimately, the knowledge acquired from these data will contribute to an improved understanding of the overall population health of this species and aid in ongoing and future conservation efforts.

  17. Parasite Genome Projects and the Trypanosoma cruzi Genome Initiative

    Wim Degrave

    1997-11-01

    Full Text Available Since the start of the human genome project, a great number of genome projects on other "model" organism have been initiated, some of them already completed. Several initiatives have also been started on parasite genomes, mainly through support from WHO/TDR, involving North-South and South-South collaborations, and great hopes are vested in that these initiatives will lead to new tools for disease control and prevention, as well as to the establishment of genomic research technology in developing countries. The Trypanosoma cruzi genome project, using the clone CL-Brener as starting point, has made considerable progress through the concerted action of more than 20 laboratories, most of them in the South. A brief overview of the current state of the project is given

  18. Helminth genome projects: all or nothing

    Lukeš, Julius; Horák, Aleš; Scholz, Tomáš

    2005-01-01

    Roč. 21, č. 6 (2005), s. 265-266 ISSN 1471-4922 Institutional research plan: CEZ:AV0Z60220518 Keywords : genome project * helminth * Dracunculus Subject RIV: EG - Zoology Impact factor: 4.526, year: 2005

  19. The life cycle of a genome project: perspectives and guidelines inspired by insect genome projects.

    Papanicolaou, Alexie

    2016-01-01

    Many research programs on non-model species biology have been empowered by genomics. In turn, genomics is underpinned by a reference sequence and ancillary information created by so-called "genome projects". The most reliable genome projects are the ones created as part of an active research program and designed to address specific questions but their life extends past publication. In this opinion paper I outline four key insights that have facilitated maintaining genomic communities: the key role of computational capability, the iterative process of building genomic resources, the value of community participation and the importance of manual curation. Taken together, these ideas can and do ensure the longevity of genome projects and the growing non-model species community can use them to focus a discussion with regards to its future genomic infrastructure.

  20. Epidemiology & Genomics Research Program

    The Epidemiology and Genomics Research Program, in the National Cancer Institute's Division of Cancer Control and Population Sciences, funds research in human populations to understand the determinants of cancer occurrence and outcomes.

  1. The Ensembl genome database project.

    Hubbard, T; Barker, D; Birney, E; Cameron, G; Chen, Y; Clark, L; Cox, T; Cuff, J; Curwen, V; Down, T; Durbin, R; Eyras, E; Gilbert, J; Hammond, M; Huminiecki, L; Kasprzyk, A; Lehvaslaiho, H; Lijnzaad, P; Melsopp, C; Mongin, E; Pettett, R; Pocock, M; Potter, S; Rust, A; Schmidt, E; Searle, S; Slater, G; Smith, J; Spooner, W; Stabenau, A; Stalker, J; Stupka, E; Ureta-Vidal, A; Vastrik, I; Clamp, M

    2002-01-01

    The Ensembl (http://www.ensembl.org/) database project provides a bioinformatics framework to organise biology around the sequences of large genomes. It is a comprehensive source of stable automatic annotation of the human genome sequence, with confirmed gene predictions that have been integrated with external data sources, and is available as either an interactive web site or as flat files. It is also an open source software engineering project to develop a portable system able to handle very large genomes and associated requirements from sequence analysis to data storage and visualisation. The Ensembl site is one of the leading sources of human genome sequence annotation and provided much of the analysis for publication by the international human genome project of the draft genome. The Ensembl system is being installed around the world in both companies and academic sites on machines ranging from supercomputers to laptops.

  2. The Micronutrient Genomics Project: A community-driven knowledge base for micronutrient research

    Ommen, B. van; El-Sohemy, A.; Hesketh, J.; Kaput, J.; Fenech, M.; Evelo, C.T.; McArdle, H.J.; Bouwman, J.; Lietz, G.; Mathers, J.C.; Fairweather-Tait, S.; Kranen, H. van; Elliott, R.; Wopereis, S.; Ferguson, L.R.; Méplan, C.; Perozzi, G.; Allen, L.; Rivero, D.

    2010-01-01

    Micronutrients influence multiple metabolic pathways including oxidative and inflammatory processes. Optimum micronutrient supply is important for the maintenance of homeostasis in metabolism and, ultimately, for maintaining good health. With advances in systems biology and genomics technologies, it

  3. Origins of the Human Genome Project.

    Watson, J D; Cook-Deegan, R M

    1991-01-01

    The Human Genome Project has become a reality. Building on a debate that dates back to 1985, several genome projects are now in full stride around the world, and more are likely to form in the next several years. Italy began its genome program in 1987, and the United Kingdom and U.S.S.R. in 1988. The European communities mounted several genome projects on yeast, bacteria, Drosophila, and Arabidospis thaliana (a rapidly growing plant with a small genome) in 1988, and in 1990 commenced a new 2-year program on the human genome. In the United States, we have completed the first year of operation of the National Center for Human Genome Research at the National Institutes of Health (NIH), now the largest single funding source for genome research in the world. There have been dedicated budgets focused on genome-scale research at NIH, the U.S. Department of Energy, and the Howard Hughes Medical Institute for several years, and results are beginning to accumulate. There were three annual meetings on genome mapping and sequencing at Cold Spring Harbor, New York, in the spring of 1988, 1989, and 1990; the talks have shifted from a discussion about how to approach problems to presenting results from experiments already performed. We have finally begun to work rather than merely talk. The purpose of genome projects is to assemble data on the structure of DNA in human chromosomes and those of other organisms. A second goal is to develop new technologies to perform mapping and sequencing. There have been impressive technical advances in the past 5 years since the debate about the human genome project began. We are on the verge of beginning pilot projects to test several approaches to sequencing long stretches of DNA, using both automation and manual methods. Ordered sets of yeast artificial chromosome and cosmid clones have been assembled to span more than 2 million base pairs of several human chromosomes, and a region of 10 million base pairs has been assembled for

  4. The 1000 bull genome project

    To meet growing global demands for high value protein from milk and meat, rates of genetic gain in domestic cattle must be accelerated. At the same time, animal health and welfare must be considered. The 1000 bull genomes project supports these goals by providing annotated sequence variants and ge...

  5. The Human Genome Diversity Project

    Cavalli-Sforza, L. [Stanford Univ., CA (United States)

    1994-12-31

    The Human Genome Diversity Project (HGD Project) is an international anthropology project that seeks to study the genetic richness of the entire human species. This kind of genetic information can add a unique thread to the tapestry knowledge of humanity. Culture, environment, history, and other factors are often more important, but humanity`s genetic heritage, when analyzed with recent technology, brings another type of evidence for understanding species` past and present. The Project will deepen the understanding of this genetic richness and show both humanity`s diversity and its deep and underlying unity. The HGD Project is still largely in its planning stages, seeking the best ways to reach its goals. The continuing discussions of the Project, throughout the world, should improve the plans for the Project and their implementation. The Project is as global as humanity itself; its implementation will require the kinds of partnerships among different nations and cultures that make the involvement of UNESCO and other international organizations particularly appropriate. The author will briefly discuss the Project`s history, describe the Project, set out the core principles of the Project, and demonstrate how the Project will help combat the scourge of racism.

  6. Justice and the Human Genome Project

    Murphy, T.F.; Lappe, M. (eds.)

    1992-01-01

    Most of the essays gathered in this volume were first presented at a conference, Justice and the Human Genome, in Chicago in early November, 1991. The goal of the, conference was to consider questions of justice as they are and will be raised by the Human Genome Project. To achieve its goal of identifying and elucidating the challenges of justice inherent in genomic research and its social applications the conference drew together in one forum members from academia, medicine, and industry with interests divergent as rate-setting for insurance, the care of newborns, and the history of ethics. The essays in this volume address a number of theoretical and practical concerns relative to the meaning of genomic research.

  7. Justice and the Human Genome Project

    Murphy, T.F.; Lappe, M. [eds.

    1992-12-31

    Most of the essays gathered in this volume were first presented at a conference, Justice and the Human Genome, in Chicago in early November, 1991. The goal of the, conference was to consider questions of justice as they are and will be raised by the Human Genome Project. To achieve its goal of identifying and elucidating the challenges of justice inherent in genomic research and its social applications the conference drew together in one forum members from academia, medicine, and industry with interests divergent as rate-setting for insurance, the care of newborns, and the history of ethics. The essays in this volume address a number of theoretical and practical concerns relative to the meaning of genomic research.

  8. Human genomics projects and precision medicine.

    Carrasco-Ramiro, F; Peiró-Pastor, R; Aguado, B

    2017-09-01

    The completion of the Human Genome Project (HGP) in 2001 opened the floodgates to a deeper understanding of medicine. There are dozens of HGP-like projects which involve from a few tens to several million genomes currently in progress, which vary from having specialized goals or a more general approach. However, data generation, storage, management and analysis in public and private cloud computing platforms have raised concerns about privacy and security. The knowledge gained from further research has changed the field of genomics and is now slowly permeating into clinical medicine. The new precision (personalized) medicine, where genome sequencing and data analysis are essential components, allows tailored diagnosis and treatment according to the information from the patient's own genome and specific environmental factors. P4 (predictive, preventive, personalized and participatory) medicine is introducing new concepts, challenges and opportunities. This review summarizes current sequencing technologies, concentrates on ongoing human genomics projects, and provides some examples in which precision medicine has already demonstrated clinical impact in diagnosis and/or treatment.

  9. High participation rate among 25 721 patients with broad age range in a hospital-based research project involving whole-genome sequencing - the Lausanne Institutional Biobank.

    Bochud, Murielle; Currat, Christine; Chapatte, Laurence; Roth, Cindy; Mooser, Vincent

    2017-10-24

    We aimed to evaluate the interest of adult inpatients and selected outpatients in engaging in a large, real-life, hospital-based, genomic medicine research project and in receiving clinically actionable incidental findings. Within the framework of the cross-sectional Institutional Biobank of Lausanne, Switzerland, a total of 25721 patients of the CHUV University Hospital were systematically invited to grant researchers access to their biomedical data and to donate blood for future analyses, including whole-genome sequencing. Multivariable logistic regression analysis was used to identify personal factors, including age, gender, religion, ethnicity, citizenship, education level and mode of admission, associated with willingness to participate in this genomic research project and with interest in receiving clinically actionable incidental findings. The overall participation rate was 79% (20343/25721). Participation rate declined progressively with age, averaging 83%, 75%, 67% and 62% in patients aged rate, but not with higher willingness to receive incidental findings within the population who had agreed to participate. A large proportion of adult patients, even among the elderly, are willing to actively participate and receive incidental findings in this systematic hospital-based precision and genomic medicine research program with broad consent.

  10. Genome projects and the functional-genomic era.

    Sauer, Sascha; Konthur, Zoltán; Lehrach, Hans

    2005-12-01

    The problems we face today in public health as a result of the -- fortunately -- increasing age of people and the requirements of developing countries create an urgent need for new and innovative approaches in medicine and in agronomics. Genomic and functional genomic approaches have a great potential to at least partially solve these problems in the future. Important progress has been made by procedures to decode genomic information of humans, but also of other key organisms. The basic comprehension of genomic information (and its transfer) should now give us the possibility to pursue the next important step in life science eventually leading to a basic understanding of biological information flow; the elucidation of the function of all genes and correlative products encoded in the genome, as well as the discovery of their interactions in a molecular context and the response to environmental factors. As a result of the sequencing projects, we are now able to ask important questions about sequence variation and can start to comprehensively study the function of expressed genes on different levels such as RNA, protein or the cell in a systematic context including underlying networks. In this article we review and comment on current trends in large-scale systematic biological research. A particular emphasis is put on technology developments that can provide means to accomplish the tasks of future lines of functional genomics.

  11. Open Access Data Sharing in Genomic Research

    Stacey Pereira

    2014-08-01

    Full Text Available The current emphasis on broad sharing of human genomic data generated in research in order to maximize utility and public benefit is a significant legacy of the Human Genome Project. Concerns about privacy and discrimination have led to policy responses that restrict access to genomic data as the means for protecting research participants. Our research and experience show, however, that a considerable number of research participants agree to open access sharing of their genomic data when given the choice. General policies that limit access to all genomic data fail to respect the autonomy of these participants and, at the same time, unnecessarily limit the utility of the data. We advocate instead a more balanced approach that allows for individual choice and encourages informed decision making, while protecting against the misuse of genomic data through enhanced legislation.

  12. Origins of the Human Genome Project

    Cook-Deegan, Robert

    1993-07-01

    The human genome project was borne of technology, grew into a science bureaucracy in the US and throughout the world, and is now being transformed into a hybrid academic and commercial enterprise. The next phase of the project promises to veer more sharply toward commercial application, harnessing both the technical prowess of molecular biology and the rapidly growing body of knowledge about DNA structure to the pursuit of practical benefits. Faith that the systematic analysis of DNA structure will prove to be a powerful research tool underlies the rationale behind the genome project. The notion that most genetic information is embedded in the sequence of CNA base pairs comprising chromosomes is a central tenet. A rough analogy is to liken an organism's genetic code to computer code. The coal of the genome project, in this parlance, is to identify and catalog 75,000 or more files (genes) in the software that directs construction of a self-modifying and self-replicating system -- a living organism.

  13. Origins of the Human Genome Project

    Cook-Deegan, Robert (Affiliation: Institute of Medicine, National Academy of Sciences)

    1993-07-01

    The human genome project was borne of technology, grew into a science bureaucracy in the United States and throughout the world, and is now being transformed into a hybrid academic and commercial enterprise. The next phase of the project promises to veer more sharply toward commercial application, harnessing both the technical prowess of molecular biology and the rapidly growing body of knowledge about DNA structure to the pursuit of practical benefits. Faith that the systematic analysis of DNA structure will prove to be a powerful research tool underlies the rationale behind the genome project. The notion that most genetic information is embedded in the sequence of CNA base pairs comprising chromosomes is a central tenet. A rough analogy is to liken an organism's genetic code to computer code. The coal of the genome project, in this parlance, is to identify and catalog 75,000 or more files (genes) in the software that directs construction of a self-modifying and self-replicating system -- a living organism.

  14. Genomics and the human genome project: implications for psychiatry

    Kelsoe, J R

    2004-01-01

    In the past decade the Human Genome Project has made extraordinary strides in understanding of fundamental human genetics. The complete human genetic sequence has been determined, and the chromosomal location of almost all human genes identified. Presently, a large international consortium, the HapMap Project, is working to identify a large portion of genetic variation in different human populations and the structure and relationship of these variants to each other. The Human Genome Project h...

  15. National human genome projects: an update and an agenda.

    An, Joon Yong

    2017-01-01

    Population genetic and human genetic studies are being accelerated with genome technology and data sharing. Accordingly, in the past 10 years, several countries have initiated genetic research using genome technology and identified the genetic architecture of the ethnic groups living in the corresponding country or suggested the genetic foundation of a social phenomenon. Genetic research has been conducted from epidemiological studies that previously described the health or disease conditions in defined population. This perspective summarizes national genome projects conducted in the past 10 years and introduces case studies to utilize genomic data in genetic research.

  16. GI-POP: a combinational annotation and genomic island prediction pipeline for ongoing microbial genome projects.

    Lee, Chi-Ching; Chen, Yi-Ping Phoebe; Yao, Tzu-Jung; Ma, Cheng-Yu; Lo, Wei-Cheng; Lyu, Ping-Chiang; Tang, Chuan Yi

    2013-04-10

    Sequencing of microbial genomes is important because of microbial-carrying antibiotic and pathogenetic activities. However, even with the help of new assembling software, finishing a whole genome is a time-consuming task. In most bacteria, pathogenetic or antibiotic genes are carried in genomic islands. Therefore, a quick genomic island (GI) prediction method is useful for ongoing sequencing genomes. In this work, we built a Web server called GI-POP (http://gipop.life.nthu.edu.tw) which integrates a sequence assembling tool, a functional annotation pipeline, and a high-performance GI predicting module, in a support vector machine (SVM)-based method called genomic island genomic profile scanning (GI-GPS). The draft genomes of the ongoing genome projects in contigs or scaffolds can be submitted to our Web server, and it provides the functional annotation and highly probable GI-predicting results. GI-POP is a comprehensive annotation Web server designed for ongoing genome project analysis. Researchers can perform annotation and obtain pre-analytic information include possible GIs, coding/non-coding sequences and functional analysis from their draft genomes. This pre-analytic system can provide useful information for finishing a genome sequencing project. Copyright © 2012 Elsevier B.V. All rights reserved.

  17. The Chlamydomonas genome project: a decade on

    Blaby, Ian K.; Blaby-Haas, Crysten; Tourasse, Nicolas; Hom, Erik F. Y.; Lopez, David; Aksoy, Munevver; Grossman, Arthur; Umen, James; Dutcher, Susan; Porter, Mary; King, Stephen; Witman, George; Stanke, Mario; Harris, Elizabeth H.; Goodstein, David; Grimwood, Jane; Schmutz, Jeremy; Vallon, Olivier; Merchant, Sabeeha S.; Prochnik, Simon

    2014-01-01

    The green alga Chlamydomonas reinhardtii is a popular unicellular organism for studying photosynthesis, cilia biogenesis and micronutrient homeostasis. Ten years since its genome project was initiated, an iterative process of improvements to the genome and gene predictions has propelled this organism to the forefront of the “omics” era. Housed at Phytozome, the Joint Genome Institute’s (JGI) plant genomics portal, the most up-to-date genomic data include a genome arranged on chromosomes and high-quality gene models with alternative splice forms supported by an abundance of RNA-Seq data. Here, we present the past, present and future of Chlamydomonas genomics. Specifically, we detail progress on genome assembly and gene model refinement, discuss resources for gene annotations, functional predictions and locus ID mapping between versions and, importantly, outline a standardized framework for naming genes. PMID:24950814

  18. A computational genomics pipeline for prokaryotic sequencing projects.

    Kislyuk, Andrey O; Katz, Lee S; Agrawal, Sonia; Hagen, Matthew S; Conley, Andrew B; Jayaraman, Pushkala; Nelakuditi, Viswateja; Humphrey, Jay C; Sammons, Scott A; Govil, Dhwani; Mair, Raydel D; Tatti, Kathleen M; Tondella, Maria L; Harcourt, Brian H; Mayer, Leonard W; Jordan, I King

    2010-08-01

    New sequencing technologies have accelerated research on prokaryotic genomes and have made genome sequencing operations outside major genome sequencing centers routine. However, no off-the-shelf solution exists for the combined assembly, gene prediction, genome annotation and data presentation necessary to interpret sequencing data. The resulting requirement to invest significant resources into custom informatics support for genome sequencing projects remains a major impediment to the accessibility of high-throughput sequence data. We present a self-contained, automated high-throughput open source genome sequencing and computational genomics pipeline suitable for prokaryotic sequencing projects. The pipeline has been used at the Georgia Institute of Technology and the Centers for Disease Control and Prevention for the analysis of Neisseria meningitidis and Bordetella bronchiseptica genomes. The pipeline is capable of enhanced or manually assisted reference-based assembly using multiple assemblers and modes; gene predictor combining; and functional annotation of genes and gene products. Because every component of the pipeline is executed on a local machine with no need to access resources over the Internet, the pipeline is suitable for projects of a sensitive nature. Annotation of virulence-related features makes the pipeline particularly useful for projects working with pathogenic prokaryotes. The pipeline is licensed under the open-source GNU General Public License and available at the Georgia Tech Neisseria Base (http://nbase.biology.gatech.edu/). The pipeline is implemented with a combination of Perl, Bourne Shell and MySQL and is compatible with Linux and other Unix systems.

  19. The modest beginnings of one genome project.

    Kaback, David B

    2013-06-01

    One of the top things on a geneticist's wish list has to be a set of mutants for every gene in their particular organism. Such a set was produced for the yeast, Saccharomyces cerevisiae near the end of the 20th century by a consortium of yeast geneticists. However, the functional genomic analysis of one chromosome, its smallest, had already begun more than 25 years earlier as a project that was designed to define most or all of that chromosome's essential genes by temperature-sensitive lethal mutations. When far fewer than expected genes were uncovered, the relatively new field of molecular cloning enabled us and indeed, the entire community of yeast researchers to approach this problem more definitively. These studies ultimately led to cloning, genomic sequencing, and the production and phenotypic analysis of the entire set of knockout mutations for this model organism as well as a better concept of what defines an essential function, a wish fulfilled that enables this model eukaryote to continue at the forefront of research in modern biology.

  20. Attitudes towards the Human Genome Project.

    Shahroudi, Julie; Shaw, Geraldine

    Attitudes concerning the Human Genome Project were reported by faculty (N=40) and students (N=66) from a liberal arts college. Positive attitudes toward the project involved privacy, insurance and health, economic purposes, reproductive purposes, genetic counseling, religion and overall opinions. Negative attitudes were expressed regarding…

  1. Human Genome Research: Decoding DNA

    dropdown arrow Site Map A-Z Index Menu Synopsis Human Genome Research: Decoding DNA Resources with of the DNA double helix during April 2003. James D. Watson, Francis Crick, and Maurice Wilkins were company Celera announced the completion of a "working draft" reference DNA sequence of the human

  2. Human genome project: revolutionizing biology through leveraging technology

    Dahl, Carol A.; Strausberg, Robert L.

    1996-04-01

    The Human Genome Project (HGP) is an international project to develop genetic, physical, and sequence-based maps of the human genome. Since the inception of the HGP it has been clear that substantially improved technology would be required to meet the scientific goals, particularly in order to acquire the complete sequence of the human genome, and that these technologies coupled with the information forthcoming from the project would have a dramatic effect on the way biomedical research is performed in the future. In this paper, we discuss the state-of-the-art for genomic DNA sequencing, technological challenges that remain, and the potential technological paths that could yield substantially improved genomic sequencing technology. The impact of the technology developed from the HGP is broad-reaching and a discussion of other research and medical applications that are leveraging HGP-derived DNA analysis technologies is included. The multidisciplinary approach to the development of new technologies that has been successful for the HGP provides a paradigm for facilitating new genomic approaches toward understanding the biological role of functional elements and systems within the cell, including those encoded within genomic DNA and their molecular products.

  3. Fiscal 1998 achievement report. Industrial technology research and development project. (Strategic human cDNA genome application technology development); 1998 nendo senryakuteki hito cDNA genome oyo gijutsu kaihatsu seika hokokusho

    NONE

    2000-03-01

    A human genome related project named above was started, and studies were conducted for base sequence determination and function analysis for approximately 10,000 kinds of full-length or long-chain human cDNA clones owned by research organizations in this country. The Institute of Medical Science of University of Tokyo and Helix Research Institute dealt with a full-length human cDNA library constructed by oligo-capping, and determined the base sequences of all specimens in the library. The Kazusa DNA Research Institute determined partial sequences for long-chain clones which are not shorter than 4-5kbp, and determined entire sequences for some bases. The obtained base sequence data were subjected to homology analysis, the base sequences were converted into amino acid sequences, and functions of proteins were predicted. In the analysis of gene functions, ATAC-PCR (adaptor tagged competitive-polymerase chain reaction) was applied to the clones covered by this project, and a database was prepared by use of the results of analyses of frequency-related information. For the preparation of a comprehensive gene expression profile, technologies for cDNA microarray construction were established. (NEDO)

  4. Student Research Projects

    Yeske, Lanny A.

    1998-01-01

    Numerous FY1998 student research projects were sponsored by the Mississippi State University Center for Air Sea Technology. This technical note describes these projects which include research on: (1) Graphical User Interfaces, (2) Master Environmental Library, (3) Database Management Systems, (4) Naval Interactive Data Analysis System, (5) Relocatable Modeling Environment, (6) Tidal Models, (7) Book Inventories, (8) System Analysis, (9) World Wide Web Development, (10) Virtual Data Warehouse, (11) Enterprise Information Explorer, (12) Equipment Inventories, (13) COADS, and (14) JavaScript Technology.

  5. Genomic Prediction from Whole Genome Sequence in Livestock: The 1000 Bull Genomes Project

    Hayes, Benjamin J; MacLeod, Iona M; Daetwyler, Hans D

    Advantages of using whole genome sequence data to predict genomic estimated breeding values (GEBV) include better persistence of accuracy of GEBV across generations and more accurate GEBV across breeds. The 1000 Bull Genomes Project provides a database of whole genome sequenced key ancestor bulls....... In a dairy data set, predictions using BayesRC and imputed sequence data from 1000 Bull Genomes were 2% more accurate than with 800k data. We could demonstrate the method identified causal mutations in some cases. Further improvements will come from more accurate imputation of sequence variant genotypes...

  6. The Human Genome Project and Biology Education.

    McInerney, Joseph D.

    1996-01-01

    Highlights the importance of the Human Genome Project in educating the public about genetics. Discusses four challenges that science educators must address: teaching for conceptual understanding, the nature of science, the personal and social impact of science and technology, and the principles of technology. Contains 45 references. (JRH)

  7. The human Genome project and the future of oncology

    Collins, Francis S.

    1996-01-01

    The Human Genome Project is an ambitious 15-year effort to devise maps and sequence of the 3-billion base pair human genome, including all 100,000 genes. The project is running ahead of schedule and under budget. Already the effects on progress in disease gene discovery have been dramatic, especially for cancer. The most appropriate uses of susceptibility testing for breast, ovarian, and colon cancer are being investigated in research protocols, and the need to prevent genetic discrimination in employment and health insurance is becoming more urgent. In the longer term, these gene discoveries are likely to usher in a new era of therapeutic molecular medicine

  8. Enhancing Biology Instruction with the Human Genome Project

    Buxeda, Rosa J.; Moore-Russo, Deborah A.

    2003-01-01

    The Human Genome Project (HGP) is a recent scientific milestone that has received notable attention. This article shows how a biology course is using the HGP to enhance students' experiences by providing awareness of cutting edge research, with information on new emerging career options, and with opportunities to consider ethical questions raised…

  9. Partnering for functional genomics research conference: Abstracts of poster presentations

    NONE

    1998-06-01

    This reports contains abstracts of poster presentations presented at the Functional Genomics Research Conference held April 16--17, 1998 in Oak Ridge, Tennessee. Attention is focused on the following areas: mouse mutagenesis and genomics; phenotype screening; gene expression analysis; DNA analysis technology development; bioinformatics; comparative analyses of mouse, human, and yeast sequences; and pilot projects to evaluate methodologies.

  10. Implications of the Human Genome Project

    Kitcher, P.

    1998-11-01

    The Human Genome Project (HGP), launched in 1991, aims to map and sequence the human genome by 2006. During the fifteen-year life of the project, it is projected that $3 billion in federal funds will be allocated to it. The ultimate aims of spending this money are to analyze the structure of human DNA, to identify all human genes, to recognize the functions of those genes, and to prepare for the biology and medicine of the twenty-first century. The following summary examines some of the implications of the program, concentrating on its scientific import and on the ethical and social problems that it raises. Its aim is to expose principles that might be used in applying the information which the HGP will generate. There is no attempt here to translate the principles into detailed proposals for legislation. Arguments and discussion can be found in the full report, but, like this summary, that report does not contain any legislative proposals.

  11. Implementation of genomics research in Africa: challenges and recommendations.

    Adebamowo, Sally N; Francis, Veronica; Tambo, Ernest; Diallo, Seybou H; Landouré, Guida; Nembaware, Victoria; Dareng, Eileen; Muhamed, Babu; Odutola, Michael; Akeredolu, Teniola; Nerima, Barbara; Ozumba, Petronilla J; Mbhele, Slee; Ghanash, Anita; Wachinou, Ablo P; Ngomi, Nicholas

    2018-01-01

    There is exponential growth in the interest and implementation of genomics research in Africa. This growth has been facilitated by the Human Hereditary and Health in Africa (H3Africa) initiative, which aims to promote a contemporary research approach to the study of genomics and environmental determinants of common diseases in African populations. The purpose of this article is to describe important challenges affecting genomics research implementation in Africa. The observations, challenges and recommendations presented in this article were obtained through discussions by African scientists at teleconferences and face-to-face meetings, seminars at consortium conferences and in-depth individual discussions. Challenges affecting genomics research implementation in Africa, which are related to limited resources include ill-equipped facilities, poor accessibility to research centers, lack of expertise and an enabling environment for research activities in local hospitals. Challenges related to the research study include delayed funding, extensive procedures and interventions requiring multiple visits, delays setting up research teams and insufficient staff training, language barriers and an underappreciation of cultural norms. While many African countries are struggling to initiate genomics projects, others have set up genomics research facilities that meet international standards. The lessons learned in implementing successful genomics projects in Africa are recommended as strategies to overcome these challenges. These recommendations may guide the development and application of new research programs in low-resource settings.

  12. Implementation of genomics research in Africa: challenges and recommendations

    Adebamowo, Sally N.; Francis, Veronica; Tambo, Ernest; Diallo, Seybou H.; Landouré, Guida; Nembaware, Victoria; Dareng, Eileen; Muhamed, Babu; Odutola, Michael; Akeredolu, Teniola; Nerima, Barbara; Ozumba, Petronilla J.; Mbhele, Slee; Ghanash, Anita; Wachinou, Ablo P.; Ngomi, Nicholas

    2018-01-01

    ABSTRACT Background: There is exponential growth in the interest and implementation of genomics research in Africa. This growth has been facilitated by the Human Hereditary and Health in Africa (H3Africa) initiative, which aims to promote a contemporary research approach to the study of genomics and environmental determinants of common diseases in African populations. Objective: The purpose of this article is to describe important challenges affecting genomics research implementation in Africa. Methods: The observations, challenges and recommendations presented in this article were obtained through discussions by African scientists at teleconferences and face-to-face meetings, seminars at consortium conferences and in-depth individual discussions. Results: Challenges affecting genomics research implementation in Africa, which are related to limited resources include ill-equipped facilities, poor accessibility to research centers, lack of expertise and an enabling environment for research activities in local hospitals. Challenges related to the research study include delayed funding, extensive procedures and interventions requiring multiple visits, delays setting up research teams and insufficient staff training, language barriers and an underappreciation of cultural norms. While many African countries are struggling to initiate genomics projects, others have set up genomics research facilities that meet international standards. Conclusions: The lessons learned in implementing successful genomics projects in Africa are recommended as strategies to overcome these challenges. These recommendations may guide the development and application of new research programs in low-resource settings. PMID:29336236

  13. Freedom and Responsibility in Synthetic Genomics: The Synthetic Yeast Project.

    Sliva, Anna; Yang, Huanming; Boeke, Jef D; Mathews, Debra J H

    2015-08-01

    First introduced in 2011, the Synthetic Yeast Genome (Sc2.0) PROJECT is a large international synthetic genomics project that will culminate in the first eukaryotic cell (Saccharomyces cerevisiae) with a fully synthetic genome. With collaborators from across the globe and from a range of institutions spanning from do-it-yourself biology (DIYbio) to commercial enterprises, it is important that all scientists working on this project are cognizant of the ethical and policy issues associated with this field of research and operate under a common set of principles. In this commentary, we survey the current ethics and regulatory landscape of synthetic biology and present the Sc2.0 Statement of Ethics and Governance to which all members of the project adhere. This statement focuses on four aspects of the Sc2.0 PROJECT: societal benefit, intellectual property, safety, and self-governance. We propose that such project-level agreements are an important, valuable, and flexible model of self-regulation for similar global, large-scale synthetic biology projects in order to maximize the benefits and minimize potential harms. Copyright © 2015 by the Genetics Society of America.

  14. An overview of the human genome project

    Batzer, M.A.

    1994-01-01

    The human genome project is one of the most ambitious scientific projects to date, with the ultimate goal being a nucleotide sequence for all four billion bases of human DNA. In the process of determining the nucleotide sequence for each base, the location, function, and regulatory regions from the estimated 100,000 human genes will be identified. The genome project itself relies upon maps of the human genetic code derived from several different levels of resolution. Genetic linkage analysis provides a low resolution genome map. The information for genetic linkage maps is derived from the analysis of chromosome specific markers such as Sequence Tagged Sites (STSs), Variable Number of Tandem Repeats (VNTRs) or other polymorphic (highly informative) loci in a number of different-families. Using this information the location of an unknown disease gene can be limited to a region comprised of one million base pairs of DNA or less. After this point, one must construct or have access to a physical map of the region of interest. Physical mapping involves the construction of an ordered overlapping (contiguous) set of recombinant DNA clones. These clones may be derived from a number of different vectors including cosmids, Bacterial Artificial Chromosomes (BACs), P1 derived Artificial Chromosomes (PACs), somatic cell hybrids, or Yeast Artificial Chromosomes (YACs). The ultimate goal for physical mapping is to establish a completely overlapping (contiguous) set of clones for the entire genome. After a gene or region of interest has been localized using physical mapping the nucleotide sequence is determined. The overlap between genetic mapping, physical mapping and DNA sequencing has proven to be a powerful tool for the isolation of disease genes through positional cloning.

  15. Basic research projects

    1979-04-01

    The research programs under the cognizance of the Office of Energy Research (OER) are directed toward discovery of natural laws and new knowledge, and to improved understanding of the physical and biological sciences as related to the development, use, and control of energy. The ultimate goal is to develop a scientific underlay for the overall DOE effort and the fundamental principles of natural phenomena so that these phenomena may be understood, and new principles, formulated. The DOE-OER outlay activities include three major programs: High Energy Physics, Nuclear Physics, and Basic Energy Sciences. Taken together, these programs represent some 30 percent of the Nation's Federal support of basic research in the energy sciences. The research activities of OER involve more than 6,000 scientists and engineers working in some 17 major Federal Research Centers and at more than 135 different universities and industrial firms throughout the United States. Contract holders in the areas of high-energy physics, nuclear physics, materials sciences, nuclear science, chemical sciences, engineering, mathematics geosciences, advanced energy projects, and biological energy research are listed. Funding trends for recent years are outlined

  16. Catalogue of research projects

    Skarp, K.

    1993-01-01

    The Centre for Materials Science serves as an umbrella for organizations involved in materials research at the two Universities and at certain branch institutes in the Gothenburg region. The general goal of the Centre is to promote materials research among the member organizations and to provide a link to industry and to the society at large. Members of the Centre work on most aspects of modern materials research, ranging from single-atom manipulation and theoretical simulations to biomaterials and production engineering. In order to give a presentation of the members and their research, the Centre produces an inventory of materials research projects approximately every four years. The 1993 issue is somewhat more extensive than previous editions, detailing e.g. also scientific equipment and listing work published during the past four years. The register covers the following main headings: General materials and surface science; Materials chemistry; Polymers and fibres; Biomaterials; Clusters and fine particles; Electronic and opto-electronic materials; Superconductors and nanometer structures; Ceramics; Metals; Building materials; Production and materials processing

  17. Development of Bioinformatics Infrastructure for Genomics Research.

    Mulder, Nicola J; Adebiyi, Ezekiel; Adebiyi, Marion; Adeyemi, Seun; Ahmed, Azza; Ahmed, Rehab; Akanle, Bola; Alibi, Mohamed; Armstrong, Don L; Aron, Shaun; Ashano, Efejiro; Baichoo, Shakuntala; Benkahla, Alia; Brown, David K; Chimusa, Emile R; Fadlelmola, Faisal M; Falola, Dare; Fatumo, Segun; Ghedira, Kais; Ghouila, Amel; Hazelhurst, Scott; Isewon, Itunuoluwa; Jung, Segun; Kassim, Samar Kamal; Kayondo, Jonathan K; Mbiyavanga, Mamana; Meintjes, Ayton; Mohammed, Somia; Mosaku, Abayomi; Moussa, Ahmed; Muhammd, Mustafa; Mungloo-Dilmohamud, Zahra; Nashiru, Oyekanmi; Odia, Trust; Okafor, Adaobi; Oladipo, Olaleye; Osamor, Victor; Oyelade, Jellili; Sadki, Khalid; Salifu, Samson Pandam; Soyemi, Jumoke; Panji, Sumir; Radouani, Fouzia; Souiai, Oussama; Tastan Bishop, Özlem

    2017-06-01

    Although pockets of bioinformatics excellence have developed in Africa, generally, large-scale genomic data analysis has been limited by the availability of expertise and infrastructure. H3ABioNet, a pan-African bioinformatics network, was established to build capacity specifically to enable H3Africa (Human Heredity and Health in Africa) researchers to analyze their data in Africa. Since the inception of the H3Africa initiative, H3ABioNet's role has evolved in response to changing needs from the consortium and the African bioinformatics community. H3ABioNet set out to develop core bioinformatics infrastructure and capacity for genomics research in various aspects of data collection, transfer, storage, and analysis. Various resources have been developed to address genomic data management and analysis needs of H3Africa researchers and other scientific communities on the continent. NetMap was developed and used to build an accurate picture of network performance within Africa and between Africa and the rest of the world, and Globus Online has been rolled out to facilitate data transfer. A participant recruitment database was developed to monitor participant enrollment, and data is being harmonized through the use of ontologies and controlled vocabularies. The standardized metadata will be integrated to provide a search facility for H3Africa data and biospecimens. Because H3Africa projects are generating large-scale genomic data, facilities for analysis and interpretation are critical. H3ABioNet is implementing several data analysis platforms that provide a large range of bioinformatics tools or workflows, such as Galaxy, the Job Management System, and eBiokits. A set of reproducible, portable, and cloud-scalable pipelines to support the multiple H3Africa data types are also being developed and dockerized to enable execution on multiple computing infrastructures. In addition, new tools have been developed for analysis of the uniquely divergent African data and for

  18. The international Genome sample resource (IGSR): A worldwide collection of genome variation incorporating the 1000 Genomes Project data.

    Clarke, Laura; Fairley, Susan; Zheng-Bradley, Xiangqun; Streeter, Ian; Perry, Emily; Lowy, Ernesto; Tassé, Anne-Marie; Flicek, Paul

    2017-01-04

    The International Genome Sample Resource (IGSR; http://www.internationalgenome.org) expands in data type and population diversity the resources from the 1000 Genomes Project. IGSR represents the largest open collection of human variation data and provides easy access to these resources. IGSR was established in 2015 to maintain and extend the 1000 Genomes Project data, which has been widely used as a reference set of human variation and by researchers developing analysis methods. IGSR has mapped all of the 1000 Genomes sequence to the newest human reference (GRCh38), and will release updated variant calls to ensure maximal usefulness of the existing data. IGSR is collecting new structural variation data on the 1000 Genomes samples from long read sequencing and other technologies, and will collect relevant functional data into a single comprehensive resource. IGSR is extending coverage with new populations sequenced by collaborating groups. Here, we present the new data and analysis that IGSR has made available. We have also introduced a new data portal that increases discoverability of our data-previously only browseable through our FTP site-by focusing on particular samples, populations or data sets of interest. © The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research.

  19. Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio.

    Manolio, Teri A

    2016-10-01

    Increasing knowledge about the influence of genetic variation on human health and growing availability of reliable, cost-effective genetic testing have spurred the implementation of genomic medicine in the clinic. As defined by the National Human Genome Research Institute (NHGRI), genomic medicine uses an individual's genetic information in his or her clinical care, and has begun to be applied effectively in areas such as cancer genomics, pharmacogenomics, and rare and undiagnosed diseases. In 2011 NHGRI published its strategic vision for the future of genomic research, including an ambitious research agenda to facilitate and promote the implementation of genomic medicine. To realize this agenda, NHGRI is consulting and facilitating collaborations with the external research community through a series of "Genomic Medicine Meetings," under the guidance and leadership of the National Advisory Council on Human Genome Research. These meetings have identified and begun to address significant obstacles to implementation, such as lack of evidence of efficacy, limited availability of genomics expertise and testing, lack of standards, and difficulties in integrating genomic results into electronic medical records. The six research and dissemination initiatives comprising NHGRI's genomic research portfolio are designed to speed the evaluation and incorporation, where appropriate, of genomic technologies and findings into routine clinical care. Actual adoption of successful approaches in clinical care will depend upon the willingness, interest, and energy of professional societies, practitioners, patients, and payers to promote their responsible use and share their experiences in doing so. Published by Elsevier Ireland Ltd.

  20. Human genome and genetic sequencing research and informed consent

    Iwakawa, Mayumi

    2003-01-01

    On March 29, 2001, the Ethical Guidelines for Human Genome and Genetic Sequencing Research were established. They have intended to serve as ethical guidelines for all human genome and genetic sequencing research practice, for the purpose of upholding respect for human dignity and rights and enforcing use of proper methods in the pursuit of human genome and genetic sequencing research, with the understanding and cooperation of the public. The RadGenomics Project has prepared a research protocol and informed consent document that follow these ethical guidelines. We have endeavored to protect the privacy of individual information, and have established a procedure for examination of research practices by an ethics committee. Here we report our procedure in order to offer this concept to the patients. (authors)

  1. The Human Genome Project (HGP): dividends and challenges: a ...

    The Human Genome Project (HGP): dividends and challenges: a review. ... Genomic studies have given profound insights into the genetic organization of ... with it will be an essential part of modern medicine and biology for years to come.

  2. Genomics Research: World Survey of Public Funding

    Cook-Deegan Robert M

    2008-10-01

    Full Text Available Abstract Background Over the past two decades, genomics has evolved as a scientific research discipline. Genomics research was fueled initially by government and nonprofit funding sources, later augmented by private research and development (R&D funding. Citizens and taxpayers of many countries have funded much of the research, and have expectations about access to the resulting information and knowledge. While access to knowledge gained from all publicly funded research is desired, access is especially important for fields that have broad social impact and stimulate public dialogue. Genomics is one such field, where public concerns are raised for reasons such as health care and insurance implications, as well as personal and ancestral identification. Thus, genomics has grown rapidly as a field, and attracts considerable interest. Results One way to study the growth of a field of research is to examine its funding. This study focuses on public funding of genomics research, identifying and collecting data from major government and nonprofit organizations around the world, and updating previous estimates of world genomics research funding, including information about geographical origins. We initially identified 89 publicly funded organizations; we requested information about each organization's funding of genomics research. Of these organizations, 48 responded and 34 reported genomics research expenditures (of those that responded but did not supply information, some did not fund such research, others could not quantify it. The figures reported here include all the largest funders and we estimate that we have accounted for most of the genomics research funding from government and nonprofit sources. Conclusion Aggregate spending on genomics research from 34 funding sources averaged around $2.9 billion in 2003 – 2006. The United States spent more than any other country on genomics research, corresponding to 35% of the overall worldwide public

  3. Creating a platform for collaborative genomic research

    Mark Smithson

    2017-04-01

    The developed genomics informatics platform provides a step-change in this type of genetic research, accelerating reproducible collaborative research across multiple disparate organisations and data sources, of varying type and complexity.

  4. Freedom and Responsibility in Synthetic Genomics: The Synthetic Yeast Project

    Sliva, Anna; Yang, Huanming; Boeke, Jef D.; Mathews, Debra J. H.

    2015-01-01

    First introduced in 2011, the Synthetic Yeast Genome (Sc2.0) Project is a large international synthetic genomics project that will culminate in the first eukaryotic cell (Saccharomyces cerevisiae) with a fully synthetic genome. With collaborators from across the globe and from a range of institutions spanning from do-it-yourself biology (DIYbio) to commercial enterprises, it is important that all scientists working on this project are cognizant of the ethical and policy issues associated with...

  5. National register of research projects

    1985-03-01

    This Register is intended to serve as a source of information on research which is being conducted in all fields (both natural and human sciences) in the Republic of South Africa. New research projects commenced during 1983 or 1984, and significantly changed research projects, as well as project that were completed or terminated during this period, on which information was received by the compilers before December 1984, are included, with the exception of confidential projects.

  6. A 1000 Arab genome project to study the Emirati population.

    Al-Ali, Mariam; Osman, Wael; Tay, Guan K; AlSafar, Habiba S

    2018-04-01

    Discoveries from the human genome, HapMap, and 1000 genome projects have collectively contributed toward the creation of a catalog of human genetic variations that has improved our understanding of human diversity. Despite the collegial nature of many of these genome study consortiums, which has led to the cataloging of genetic variations of different ethnic groups from around the world, genome data on the Arab population remains overwhelmingly underrepresented. The National Arab Genome project in the United Arab Emirates (UAE) aims to address this deficiency by using Next Generation Sequencing (NGS) technology to provide data to improve our understanding of the Arab genome and catalog variants that are unique to the Arab population of the UAE. The project was conceived to shed light on the similarities and differences between the Arab genome and those of the other ethnic groups.

  7. Understanding the Human Genome Project — A Fact Sheet | NIH MedlinePlus the Magazine

    ... The Human Genome Project spurred a revolution in biotechnology innovation around the world and played a key ... the U.S. the global leader in the new biotechnology sector. In April 2003, researchers successfully completed the ...

  8. Skate Genome Project: Cyber-Enabled Bioinformatics Collaboration

    Vincent, J.

    2011-01-01

    The Skate Genome Project, a pilot project of the North East Cyber infrastructure Consortium, aims to produce a draft genome sequence of Leucoraja erinacea, the Little Skate. The pilot project was designed to also develop expertise in large scale collaborations across the NECC region. An overview of the bioinformatics and infrastructure challenges faced during the first year of the project will be presented. Results to date and lessons learned from the perspective of a bioinformatics core will be highlighted.

  9. Next-Generation Genomics Facility at C-CAMP: Accelerating Genomic Research in India

    S, Chandana; Russiachand, Heikham; H, Pradeep; S, Shilpa; M, Ashwini; S, Sahana; B, Jayanth; Atla, Goutham; Jain, Smita; Arunkumar, Nandini; Gowda, Malali

    2014-01-01

    Next-Generation Sequencing (NGS; http://www.genome.gov/12513162) is a recent life-sciences technological revolution that allows scientists to decode genomes or transcriptomes at a much faster rate with a lower cost. Genomic-based studies are in a relatively slow pace in India due to the non-availability of genomics experts, trained personnel and dedicated service providers. Using NGS there is a lot of potential to study India's national diversity (of all kinds). We at the Centre for Cellular and Molecular Platforms (C-CAMP) have launched the Next Generation Genomics Facility (NGGF) to provide genomics service to scientists, to train researchers and also work on national and international genomic projects. We have HiSeq1000 from Illumina and GS-FLX Plus from Roche454. The long reads from GS FLX Plus, and high sequence depth from HiSeq1000, are the best and ideal hybrid approaches for de novo and re-sequencing of genomes and transcriptomes. At our facility, we have sequenced around 70 different organisms comprising of more than 388 genomes and 615 transcriptomes – prokaryotes and eukaryotes (fungi, plants and animals). In addition we have optimized other unique applications such as small RNA (miRNA, siRNA etc), long Mate-pair sequencing (2 to 20 Kb), Coding sequences (Exome), Methylome (ChIP-Seq), Restriction Mapping (RAD-Seq), Human Leukocyte Antigen (HLA) typing, mixed genomes (metagenomes) and target amplicons, etc. Translating DNA sequence data from NGS sequencer into meaningful information is an important exercise. Under NGGF, we have bioinformatics experts and high-end computing resources to dissect NGS data such as genome assembly and annotation, gene expression, target enrichment, variant calling (SSR or SNP), comparative analysis etc. Our services (sequencing and bioinformatics) have been utilized by more than 45 organizations (academia and industry) both within India and outside, resulting several publications in peer-reviewed journals and several genomic

  10. The Human Genome Project: how do we protect Australians?

    Stott Despoja, N

    It is the moon landing of the nineties: the ambitious Human Genome Project--identifying the up to 100,000 genes that make up human DNA and the sequences of the three billion base-pairs that comprise the human genome. However, unlike the moon landing, the effects of the genome project will have a fundamental impact on the way we see ourselves and each other.

  11. The Genome of the Netherlands: design, and project goals

    Boomsma, Dorret I; Wijmenga, Cisca; Slagboom, Eline P; Swertz, Morris A; Karssen, Lennart C; Abdellaoui, Abdel; Ye, Kai; Guryev, Victor; Vermaat, Martijn; van Dijk, Freerk; Francioli, Laurent C; Hottenga, Jouke Jan; Laros, Jeroen F J; Li, Qibin; Li, Yingrui; Cao, Hongzhi; Chen, Ruoyan; Du, Yuanping; Li, Ning; Cao, Sujie; van Setten, Jessica; Menelaou, Androniki; Pulit, Sara L; Hehir-Kwa, Jayne Y; Beekman, Marian; Elbers, Clara C; Byelas, Heorhiy; de Craen, Anton J M; Deelen, Patrick; Dijkstra, Martijn; den Dunnen, Johan T; de Knijff, Peter; Houwing-Duistermaat, Jeanine; Koval, Vyacheslav; Estrada, Karol; Hofman, Albert; Kanterakis, Alexandros; Enckevort, David van; Mai, Hailiang; Kattenberg, Mathijs; van Leeuwen, Elisabeth M; Neerincx, Pieter B T; Oostra, Ben; Rivadeneira, Fernanodo; Suchiman, Eka H D; Uitterlinden, Andre G; Willemsen, Gonneke; Wolffenbuttel, Bruce H; Wang, Jun; de Bakker, Paul I W; van Ommen, Gert-Jan; van Duijn, Cornelia M

    2014-01-01

    Within the Netherlands a national network of biobanks has been established (Biobanking and Biomolecular Research Infrastructure-Netherlands (BBMRI-NL)) as a national node of the European BBMRI. One of the aims of BBMRI-NL is to enrich biobanks with different types of molecular and phenotype data. Here, we describe the Genome of the Netherlands (GoNL), one of the projects within BBMRI-NL. GoNL is a whole-genome-sequencing project in a representative sample consisting of 250 trio-families from all provinces in the Netherlands, which aims to characterize DNA sequence variation in the Dutch population. The parent–offspring trios include adult individuals ranging in age from 19 to 87 years (mean=53 years; SD=16 years) from birth cohorts 1910–1994. Sequencing was done on blood-derived DNA from uncultured cells and accomplished coverage was 14–15x. The family-based design represents a unique resource to assess the frequency of regional variants, accurately reconstruct haplotypes by family-based phasing, characterize short indels and complex structural variants, and establish the rate of de novo mutational events. GoNL will also serve as a reference panel for imputation in the available genome-wide association studies in Dutch and other cohorts to refine association signals and uncover population-specific variants. GoNL will create a catalog of human genetic variation in this sample that is uniquely characterized with respect to micro-geographic location and a wide range of phenotypes. The resource will be made available to the research and medical community to guide the interpretation of sequencing projects. The present paper summarizes the global characteristics of the project. PMID:23714750

  12. The History Research Project

    Estes, Matt; Brady, Ann

    2005-01-01

    Matt Estes, a social studies teacher, mentions the main instructional goals for his students like understanding the importance of proper citation and attribution presenting the Machiavelli project that deals with the skills he wants his students to develop and the course material that must be covered. In addition, Ann Brady, a library media…

  13. Experimental Plasma Research project summaries

    1980-09-01

    This report contains descriptions of the activities supported by the Experimental Plasma Research Branch of APP. The individual project summaries were prepared by the principal investigators and include objectives and milestones for each project. The projects are arranged in six research categories: Plasma Properties; Plasma Heating; Plasma Diagnostics; Atomic, Molecular and Nuclear Physics; Advanced Superconducting Materials; and the Fusion Plasma Research Facility (FPRF). Each category is introduced with a statement of objectives and recent progress and followed by descriptions of individual projects. An overall budget summary is provided at the beginning of the report

  14. Experimental plasma research project summaries

    1978-08-01

    This report contans descriptions of the activities supported by the Experimental Plasma Research Branch of APP. The individual project summaries were prepared by the principal investigators and include objectives and milestones for each project. The projects are arranged in six research categories: Plasma Properties; Plasma Heating; Plasma Measurements and Instrumentation; Atomic, Molecular and Nuclear Physics; Advanced Superconducting Materials; and the Fusion Plasma Research Facility (FPRF). Each category is introduced with a statement of objectives and recent progress and followed by descriptions of individual projects. An overall budget summary is provided at the beginning of the report

  15. Experimental Plasma Research project summaries

    None

    1980-09-01

    This report contains descriptions of the activities supported by the Experimental Plasma Research Branch of APP. The individual project summaries were prepared by the principal investigators and include objectives and milestones for each project. The projects are arranged in six research categories: Plasma Properties; Plasma Heating; Plasma Diagnostics; Atomic, Molecular and Nuclear Physics; Advanced Superconducting Materials; and the Fusion Plasma Research Facility (FPRF). Each category is introduced with a statement of objectives and recent progress and followed by descriptions of individual projects. An overall budget summary is provided at the beginning of the report.

  16. The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

    Reuter, Miriam S; Walker, Susan; Thiruvahindrapuram, Bhooma; Whitney, Joe; Cohn, Iris; Sondheimer, Neal; Yuen, Ryan K C; Trost, Brett; Paton, Tara A; Pereira, Sergio L; Herbrick, Jo-Anne; Wintle, Richard F; Merico, Daniele; Howe, Jennifer; MacDonald, Jeffrey R; Lu, Chao; Nalpathamkalam, Thomas; Sung, Wilson W L; Wang, Zhuozhi; Patel, Rohan V; Pellecchia, Giovanna; Wei, John; Strug, Lisa J; Bell, Sherilyn; Kellam, Barbara; Mahtani, Melanie M; Bassett, Anne S; Bombard, Yvonne; Weksberg, Rosanna; Shuman, Cheryl; Cohn, Ronald D; Stavropoulos, Dimitri J; Bowdin, Sarah; Hildebrandt, Matthew R; Wei, Wei; Romm, Asli; Pasceri, Peter; Ellis, James; Ray, Peter; Meyn, M Stephen; Monfared, Nasim; Hosseini, S Mohsen; Joseph-George, Ann M; Keeley, Fred W; Cook, Ryan A; Fiume, Marc; Lee, Hin C; Marshall, Christian R; Davies, Jill; Hazell, Allison; Buchanan, Janet A; Szego, Michael J; Scherer, Stephen W

    2018-02-05

    The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing data and health information. We describe genomic variation identified in the initial recruitment cohort of 56 volunteers. Volunteers were screened for eligibility and provided informed consent for open data sharing. Using blood DNA, we performed whole genome sequencing and identified all possible classes of DNA variants. A genetic counsellor explained the implication of the results to each participant. Whole genome sequencing of the first 56 participants identified 207 662 805 sequence variants and 27 494 copy number variations. We analyzed a prioritized disease-associated data set ( n = 1606 variants) according to standardized guidelines, and interpreted 19 variants in 14 participants (25%) as having obvious health implications. Six of these variants (e.g., in BRCA1 or mosaic loss of an X chromosome) were pathogenic or likely pathogenic. Seven were risk factors for cancer, cardiovascular or neurobehavioural conditions. Four other variants - associated with cancer, cardiac or neurodegenerative phenotypes - remained of uncertain significance because of discrepancies among databases. We also identified a large structural chromosome aberration and a likely pathogenic mitochondrial variant. There were 172 recessive disease alleles (e.g., 5 individuals carried mutations for cystic fibrosis). Pharmacogenomics analyses revealed another 3.9 potentially relevant genotypes per individual. Our analyses identified a spectrum of genetic variants with potential health impact in 25% of participants. When also considering recessive alleles and variants with potential pharmacologic relevance, all 56 participants had medically relevant findings. Although access is mostly limited to research, whole genome sequencing can provide specific and novel information with the potential of major impact for health care. © 2018 Joule Inc. or its licensors.

  17. Rice Genome Research: Current Status and Future Perspectives

    Bin Han

    2008-11-01

    Full Text Available Rice ( L. is the leading genomics system among the crop plants. The sequence of the rice genome, the first cereal plant genome, was published in 2005. This review summarizes progress made in rice genome annotations, comparative genomics, and functional genomics researches. It also maps out the status of rice genomics globally and provides a vision of future research directions and resource building.

  18. Report on achievements in fiscal 1998 on research and development of the genome infomatics technology in the industrial and scientific technology research and development project. Research and development of the genome infomatics technology; 1998 nendo genome infomatics gijutsu kenkyu kaihatsu seika hokokusho

    NONE

    2000-03-01

    This paper describes the achievements in fiscal 1998 on research and development of the genome infomatics technology. First, plasmid DNA was prepared that becomes a mold for sequence reaction; primers were prepared based on the base sequence of terminal groups, which were used to perform the sequence reaction for the next step; and determination was made on the base sequence following the terminal sequence that has been determined previously. This primer walking process was repeated, whereas the obtained data for each base sequence piece were unified to have determined the base sequence in the complete-length cDNA300 clone. The complete-length cDNA853 for homo-sapiens was analyzed by using the primer walking process. The Sanger's sequencing method was used for the reaction. The resultant sequence data was verified to be of a complete-length cDNA containing the actual protein codon from the N terminal to the C terminal. A cDNA database was newly structured. The complete-length cDNA can be retrieved by using as the retrieval condition each organ originating the sequence, the manifestation frequency therein, and the keyword representing the function. (NEDO)

  19. Report on achievements in fiscal 1998 on research and development of the genome infomatics technology in the industrial and scientific technology research and development project. Research and development of the genome infomatics technology; 1998 nendo genome infomatics gijutsu kenkyu kaihatsu seika hokokusho

    NONE

    2000-03-01

    This paper describes the achievements in fiscal 1998 on research and development of the genome infomatics technology. First, plasmid DNA was prepared that becomes a mold for sequence reaction; primers were prepared based on the base sequence of terminal groups, which were used to perform the sequence reaction for the next step; and determination was made on the base sequence following the terminal sequence that has been determined previously. This primer walking process was repeated, whereas the obtained data for each base sequence piece were unified to have determined the base sequence in the complete-length cDNA300 clone. The complete-length cDNA853 for homo-sapiens was analyzed by using the primer walking process. The Sanger's sequencing method was used for the reaction. The resultant sequence data was verified to be of a complete-length cDNA containing the actual protein codon from the N terminal to the C terminal. A cDNA database was newly structured. The complete-length cDNA can be retrieved by using as the retrieval condition each organ originating the sequence, the manifestation frequency therein, and the keyword representing the function. (NEDO)

  20. The Human Genome Project: applications in the diagnosis and treatment of neurologic disease.

    Evans, G A

    1998-10-01

    The Human Genome Project (HGP), an international program to decode the entire DNA sequence of the human genome in 15 years, represents the largest biological experiment ever conducted. This set of information will contain the blueprint for the construction and operation of a human being. While the primary driving force behind the genome project is the potential to vastly expand the amount of genetic information available for biomedical research, the ramifications for other fields of study in biological research, the biotechnology and pharmaceutical industry, our understanding of evolution, effects on agriculture, and implications for bioethics are likely to be profound.

  1. Research Planning and Evaluation Project

    Song, Seunghyun; Kim, Doyang; Ryu, Byunghoon; Lim, Chaeyoung; Song, Leeyoung; Lee, Youngchul; Han, Changsun; Kim, Hackchoon

    2011-12-01

    - To activate R and D through a systematic and impartial evaluation by using information on efficient distribution of research resource, setting project priorities, and measuring achievement against goals produced after research on planning and evaluation system for the government-funded project for KAERI was conducted. - Nuclear R and D project is the representative national R and D project which has been implemented in Korea. For the sustainable development of nuclear energy which supplies about 40% of total electricity generation and the enhancement of it innovative ability in the future, a systematic and efficient strategy in the planning stage is required

  2. The UK Human Genome Mapping Project online computing service.

    Rysavy, F R; Bishop, M J; Gibbs, G P; Williams, G W

    1992-04-01

    This paper presents an overview of computing and networking facilities developed by the Medical Research Council to provide online computing support to the Human Genome Mapping Project (HGMP) in the UK. The facility is connected to a number of other computing facilities in various centres of genetics and molecular biology research excellence, either directly via high-speed links or through national and international wide-area networks. The paper describes the design and implementation of the current system, a 'client/server' network of Sun, IBM, DEC and Apple servers, gateways and workstations. A short outline of online computing services currently delivered by this system to the UK human genetics research community is also provided. More information about the services and their availability could be obtained by a direct approach to the UK HGMP-RC.

  3. Comparative genomic data of the Avian Phylogenomics Project.

    Zhang, Guojie; Li, Bo; Li, Cai; Gilbert, M Thomas P; Jarvis, Erich D; Wang, Jun

    2014-01-01

    genomic data that has been generated and used in our Avian Phylogenomics Project. To the best of our knowledge, the Avian Phylogenomics Project is the biggest vertebrate comparative genomics project to date. The genomic data presented here is expected to accelerate further analyses in many fields, including phylogenetics, comparative genomics, evolution, neurobiology, development biology, and other related areas.

  4. The Human Genome Project: big science transforms biology and medicine.

    Hood, Leroy; Rowen, Lee

    2013-01-01

    The Human Genome Project has transformed biology through its integrated big science approach to deciphering a reference human genome sequence along with the complete sequences of key model organisms. The project exemplifies the power, necessity and success of large, integrated, cross-disciplinary efforts - so-called 'big science' - directed towards complex major objectives. In this article, we discuss the ways in which this ambitious endeavor led to the development of novel technologies and analytical tools, and how it brought the expertise of engineers, computer scientists and mathematicians together with biologists. It established an open approach to data sharing and open-source software, thereby making the data resulting from the project accessible to all. The genome sequences of microbes, plants and animals have revolutionized many fields of science, including microbiology, virology, infectious disease and plant biology. Moreover, deeper knowledge of human sequence variation has begun to alter the practice of medicine. The Human Genome Project has inspired subsequent large-scale data acquisition initiatives such as the International HapMap Project, 1000 Genomes, and The Cancer Genome Atlas, as well as the recently announced Human Brain Project and the emerging Human Proteome Project.

  5. WormBase 2016: expanding to enable helminth genomic research.

    Howe, Kevin L; Bolt, Bruce J; Cain, Scott; Chan, Juancarlos; Chen, Wen J; Davis, Paul; Done, James; Down, Thomas; Gao, Sibyl; Grove, Christian; Harris, Todd W; Kishore, Ranjana; Lee, Raymond; Lomax, Jane; Li, Yuling; Muller, Hans-Michael; Nakamura, Cecilia; Nuin, Paulo; Paulini, Michael; Raciti, Daniela; Schindelman, Gary; Stanley, Eleanor; Tuli, Mary Ann; Van Auken, Kimberly; Wang, Daniel; Wang, Xiaodong; Williams, Gary; Wright, Adam; Yook, Karen; Berriman, Matthew; Kersey, Paul; Schedl, Tim; Stein, Lincoln; Sternberg, Paul W

    2016-01-04

    WormBase (www.wormbase.org) is a central repository for research data on the biology, genetics and genomics of Caenorhabditis elegans and other nematodes. The project has evolved from its original remit to collect and integrate all data for a single species, and now extends to numerous nematodes, ranging from evolutionary comparators of C. elegans to parasitic species that threaten plant, animal and human health. Research activity using C. elegans as a model system is as vibrant as ever, and we have created new tools for community curation in response to the ever-increasing volume and complexity of data. To better allow users to navigate their way through these data, we have made a number of improvements to our main website, including new tools for browsing genomic features and ontology annotations. Finally, we have developed a new portal for parasitic worm genomes. WormBase ParaSite (parasite.wormbase.org) contains all publicly available nematode and platyhelminth annotated genome sequences, and is designed specifically to support helminth genomic research. © The Author(s) 2015. Published by Oxford University Press on behalf of Nucleic Acids Research.

  6. The Human Genome Project: An Imperative for International Collaboration.

    Allende, J. E.

    1989-01-01

    Discussed is the Human Genome Project which aims to decipher the totality of the human genetic information. The historical background, the objectives, international cooperation, ethical discussion, and the role of UNESCO are included. (KR)

  7. The Human Genome Project: big science transforms biology and medicine

    Hood, Leroy; Rowen, Lee

    2013-01-01

    The Human Genome Project has transformed biology through its integrated big science approach to deciphering a reference human genome sequence along with the complete sequences of key model organisms. The project exemplifies the power, necessity and success of large, integrated, cross-disciplinary efforts - so-called ‘big science’ - directed towards complex major objectives. In this article, we discuss the ways in which this ambitious endeavor led to the development of novel technologies and a...

  8. The Human Genome Project: Information access, management, and regulation. Final report

    McInerney, J.D.; Micikas, L.B.

    1996-08-31

    The Human Genome Project is a large, internationally coordinated effort in biological research directed at creating a detailed map of human DNA. This report describes the access of information, management, and regulation of the project. The project led to the development of an instructional module titled The Human Genome Project: Biology, Computers, and Privacy, designed for use in high school biology classes. The module consists of print materials and both Macintosh and Windows versions of related computer software-Appendix A contains a copy of the print materials and discs containing the two versions of the software.

  9. The Genome 10K Project: a way forward.

    Koepfli, Klaus-Peter; Paten, Benedict; O'Brien, Stephen J

    2015-01-01

    The Genome 10K Project was established in 2009 by a consortium of biologists and genome scientists determined to facilitate the sequencing and analysis of the complete genomes of 10,000 vertebrate species. Since then the number of selected and initiated species has risen from ∼26 to 277 sequenced or ongoing with funding, an approximately tenfold increase in five years. Here we summarize the advances and commitments that have occurred by mid-2014 and outline the achievements and present challenges of reaching the 10,000-species goal. We summarize the status of known vertebrate genome projects, recommend standards for pronouncing a genome as sequenced or completed, and provide our present and future vision of the landscape of Genome 10K. The endeavor is ambitious, bold, expensive, and uncertain, but together the Genome 10K Consortium of Scientists and the worldwide genomics community are moving toward their goal of delivering to the coming generation the gift of genome empowerment for many vertebrate species.

  10. Genomics-based plant germplasm research (GPGR)

    Jizeng Jia; Hongjie Li; Xueyong Zhang; Zichao Li; Lijuan Qiu

    2017-01-01

    Plant germplasm underpins much of crop genetic improvement. Millions of germplasm accessions have been collected and conserved ex situ and/or in situ, and the major challenge is now how to exploit and utilize this abundant resource. Genomics-based plant germplasm research (GPGR) or "Genoplasmics" is a novel cross-disciplinary research field that seeks to apply the principles and techniques of genomics to germplasm research. We describe in this paper the concept, strategy, and approach behind GPGR, and summarize current progress in the areas of the definition and construction of core collections, enhancement of germplasm with core collections, and gene discovery from core collections. GPGR is opening a new era in germplasm research. The contribution, progress and achievements of GPGR in the future are predicted.

  11. Math Fact Strategies Research Project

    Boso, Annie

    2011-01-01

    An action research project was conducted in order to determine effective math fact strategies for first graders. The traditional way of teaching math facts included using timed tests and flashcards, with most students counting on their fingers or a number line. Six new research-based strategies were taught and analyzed to decide which methods…

  12. Experimental plasma research project summaries

    1982-10-01

    The experimental plasma Research Branch has responsibility for developing a broad range of experimental data and new experimental techniques that are required for operating and interpreting present large-scale confinement experiments, and for designing future deuterium-tritium burining facilities. The Branch pursued these objectives by supporting research in DOE laboratories, other Federal laboratories, other Federal laboratories, universities, and private industry. Initiation and renewal of research projects are primarily through submission of unsolicited proposals by these institutions to DOE. Summaries of these projects are given

  13. Los Alamos Science: The Human Genome Project. Number 20, 1992

    Cooper, N. G.; Shea, N. eds.

    1992-01-01

    This document provides a broad overview of the Human Genome Project, with particular emphasis on work being done at Los Alamos. It tries to emphasize the scientific aspects of the project, compared to the more speculative information presented in the popular press. There is a brief introduction to modern genetics, including a review of classic work. There is a broad overview of the Genome Project, describing what the project is, what are some of its major five-year goals, what are major technological challenges ahead of the project, and what can the field of biology, as well as society expect to see as benefits from this project. Specific results on the efforts directed at mapping chromosomes 16 and 5 are discussed. A brief introduction to DNA libraries is presented, bearing in mind that Los Alamos has housed such libraries for many years prior to the Genome Project. Information on efforts to do applied computational work related to the project are discussed, as well as experimental efforts to do rapid DNA sequencing by means of single-molecule detection using applied spectroscopic methods. The article introduces the Los Alamos staff which are working on the Genome Project, and concludes with brief discussions on ethical, legal, and social implications of this work; a brief glimpse of genetics as it may be practiced in the next century; and a glossary of relevant terms.

  14. Los Alamos Science: The Human Genome Project. Number 20, 1992

    Cooper, N G; Shea, N [eds.

    1992-01-01

    This article provides a broad overview of the Human Genome Project, with particular emphasis on work being done at Los Alamos. It tries to emphasize the scientific aspects of the project, compared to the more speculative information presented in the popular press. There is a brief introduction to modern genetics, including a review of classic work. There is a broad overview of the Genome Project, describing what the project is, what are some of its major five-year goals, what are major technological challenges ahead of the project, and what can the field of biology, as well as society expect to see as benefits from this project. Specific results on the efforts directed at mapping chromosomes 16 and 5 are discussed. A brief introduction to DNA libraries is presented, bearing in mind that Los Alamos has housed such libraries for many years prior to the Genome Project. Information on efforts to do applied computational work related to the project are discussed, as well as experimental efforts to do rapid DNA sequencing by means of single-molecule detection using applied spectroscopic methods. The article introduces the Los Alamos staff which are working on the Genome Project, and concludes with brief discussions on ethical, legal, and social implications of this work; a brief glimpse of genetics as it may be practiced in the next century; and a glossary of relevant terms.

  15. A decade of human genome project conclusion: Scientific diffusion about our genome knowledge.

    Moraes, Fernanda; Góes, Andréa

    2016-05-06

    The Human Genome Project (HGP) was initiated in 1990 and completed in 2003. It aimed to sequence the whole human genome. Although it represented an advance in understanding the human genome and its complexity, many questions remained unanswered. Other projects were launched in order to unravel the mysteries of our genome, including the ENCyclopedia of DNA Elements (ENCODE). This review aims to analyze the evolution of scientific knowledge related to both the HGP and ENCODE projects. Data were retrieved from scientific articles published in 1990-2014, a period comprising the development and the 10 years following the HGP completion. The fact that only 20,000 genes are protein and RNA-coding is one of the most striking HGP results. A new concept about the organization of genome arose. The ENCODE project was initiated in 2003 and targeted to map the functional elements of the human genome. This project revealed that the human genome is pervasively transcribed. Therefore, it was determined that a large part of the non-protein coding regions are functional. Finally, a more sophisticated view of chromatin structure emerged. The mechanistic functioning of the genome has been redrafted, revealing a much more complex picture. Besides, a gene-centric conception of the organism has to be reviewed. A number of criticisms have emerged against the ENCODE project approaches, raising the question of whether non-conserved but biochemically active regions are truly functional. Thus, HGP and ENCODE projects accomplished a great map of the human genome, but the data generated still requires further in depth analysis. © 2016 by The International Union of Biochemistry and Molecular Biology, 44:215-223, 2016. © 2016 The International Union of Biochemistry and Molecular Biology.

  16. diArk – a resource for eukaryotic genome research

    Kollmar Martin

    2007-04-01

    Full Text Available Abstract Background The number of completed eukaryotic genome sequences and cDNA projects has increased exponentially in the past few years although most of them have not been published yet. In addition, many microarray analyses yielded thousands of sequenced EST and cDNA clones. For the researcher interested in single gene analyses (from a phylogenetic, a structural biology or other perspective it is therefore important to have up-to-date knowledge about the various resources providing primary data. Description The database is built around 3 central tables: species, sequencing projects and publications. The species table contains commonly and alternatively used scientific names, common names and the complete taxonomic information. For projects the sequence type and links to species project web-sites and species homepages are stored. All publications are linked to projects. The web-interface provides comprehensive search modules with detailed options and three different views of the selected data. We have especially focused on developing an elaborate taxonomic tree search tool that allows the user to instantaneously identify e.g. the closest relative to the organism of interest. Conclusion We have developed a database, called diArk, to store, organize, and present the most relevant information about completed genome projects and EST/cDNA data from eukaryotes. Currently, diArk provides information about 415 eukaryotes, 823 sequencing projects, and 248 publications.

  17. Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges.

    Cai, Binghuang; Li, Biao; Kiga, Nikki; Thusberg, Janita; Bergquist, Timothy; Chen, Yun-Ching; Niknafs, Noushin; Carter, Hannah; Tokheim, Collin; Beleva-Guthrie, Violeta; Douville, Christopher; Bhattacharya, Rohit; Yeo, Hui Ting Grace; Fan, Jean; Sengupta, Sohini; Kim, Dewey; Cline, Melissa; Turner, Tychele; Diekhans, Mark; Zaucha, Jan; Pal, Lipika R; Cao, Chen; Yu, Chen-Hsin; Yin, Yizhou; Carraro, Marco; Giollo, Manuel; Ferrari, Carlo; Leonardi, Emanuela; Tosatto, Silvio C E; Bobe, Jason; Ball, Madeleine; Hoskins, Roger A; Repo, Susanna; Church, George; Brenner, Steven E; Moult, John; Gough, Julian; Stanke, Mario; Karchin, Rachel; Mooney, Sean D

    2017-09-01

    The advent of next-generation sequencing has dramatically decreased the cost for whole-genome sequencing and increased the viability for its application in research and clinical care. The Personal Genome Project (PGP) provides unrestricted access to genomes of individuals and their associated phenotypes. This resource enabled the Critical Assessment of Genome Interpretation (CAGI) to create a community challenge to assess the bioinformatics community's ability to predict traits from whole genomes. In the CAGI PGP challenge, researchers were asked to predict whether an individual had a particular trait or profile based on their whole genome. Several approaches were used to assess submissions, including ROC AUC (area under receiver operating characteristic curve), probability rankings, the number of correct predictions, and statistical significance simulations. Overall, we found that prediction of individual traits is difficult, relying on a strong knowledge of trait frequency within the general population, whereas matching genomes to trait profiles relies heavily upon a small number of common traits including ancestry, blood type, and eye color. When a rare genetic disorder is present, profiles can be matched when one or more pathogenic variants are identified. Prediction accuracy has improved substantially over the last 6 years due to improved methodology and a better understanding of features. © 2017 Wiley Periodicals, Inc.

  18. The human genome project and the future of medical practice ...

    Contrary to the scepticism that characterised the planning stages of the human genome project, the technology and sequence data resulting from the project are set to revolutionise medical practice for good. The expected benefits include: enhanced discovery of disease genes, which will lead to improved knowledge on the ...

  19. 20% Research & Design Science Project

    Spear, Beth A.

    2015-04-01

    A project allowing employees to use 15 % of their time on independent projects was established at 3M in the 1950's. The result of this project included products like post it notes and masking tape. Google allows its employees to use 20% of their time on independently pursued projects. The company values creativity and innovation. Employees are allowed to explore projects of interest to them one day out of the week, 20 % of their work week. Products like AdSense, Gmail, Google Transit, Google News, and Google Talk are the result of this 20 % program. My school is implementing the Next Generation Science Standards (NGSS) as part of our regularly scheduled curriculum review. These new standards focus on the process of learning by doing and designing. The NGSS are very hands on and active. The new standards emphasize learning how to define, understand and solve problems in science and technology. In today's society everyone needs to be familiar with science and technology. This project allows students to develop and practice skills to help them be more comfortable and confident with science and technology while exploring something of interest to them. This project includes three major parts: research, design, and presentation. Students will spend approximately 2-4 weeks defining a project proposal and educating themselves by researching a science and technology topic that is of interest to them. In the next phase, 2-4 weeks, students design a product or plan to collect data for something related to their topic. The time spent on research and design will be dependant on the topic students select. Projects should be ambitious enough to encompass about six weeks. Lastly a presentation or demonstration incorporating the research and design of the project is created, peer reviewed and presented to the class. There are some problems anticipated or already experienced with this project. It is difficult for all students to choose a unique topic when you have large class sizes

  20. Genomics England's implementation of its public engagement strategy: Blurred boundaries between engagement for the United Kingdom's 100,000 Genomes project and the need for public support.

    Samuel, Gabrielle Natalie; Farsides, Bobbie

    2018-04-01

    The United Kingdom's 100,000 Genomes Project has the aim of sequencing 100,000 genomes from National Health Service patients such that whole genome sequencing becomes routine clinical practice. It also has a research-focused goal to provide data for scientific discovery. Genomics England is the limited company established by the Department of Health to deliver the project. As an innovative scientific/clinical venture, it is interesting to consider how Genomics England positions itself in relation to public engagement activities. We set out to explore how individuals working at, or associated with, Genomics England enacted public engagement in practice. Our findings show that individuals offered a narrative in which public engagement performed more than one function. On one side, public engagement was seen as 'good practice'. On the other, public engagement was presented as core to the project's success - needed to encourage involvement and ultimately recruitment. We discuss the implications of this in this article.

  1. The Epilepsy Phenome/Genome Project (EPGP) informatics platform.

    Nesbitt, Gerry; McKenna, Kevin; Mays, Vickie; Carpenter, Alan; Miller, Kevin; Williams, Michael

    2013-04-01

    The Epilepsy Phenome/Genome Project (EPGP) is a large-scale, multi-institutional, collaborative network of 27 epilepsy centers throughout the U.S., Australia, and Argentina, with the objective of collecting detailed phenotypic and genetic data on a large number of epilepsy participants. The goals of EPGP are (1) to perform detailed phenotyping on 3750 participants with specific forms of non-acquired epilepsy and 1500 parents without epilepsy, (2) to obtain DNA samples on these individuals, and (3) to ultimately genotype the samples in order to discover novel genes that cause epilepsy. To carry out the project, a reliable and robust informatics platform was needed for standardized electronic data collection and storage, data quality review, and phenotypic analysis involving cases from multiple sites. EPGP developed its own suite of web-based informatics applications for participant tracking, electronic data collection (using electronic case report forms/surveys), data management, phenotypic data review and validation, specimen tracking, electroencephalograph and neuroimaging storage, and issue tracking. We implemented procedures to train and support end-users at each clinical site. Thus far, 3780 study participants have been enrolled and 20,957 web-based study activities have been completed using this informatics platform. Over 95% of respondents to an end-user satisfaction survey felt that the informatics platform was successful almost always or most of the time. The EPGP informatics platform has successfully and effectively allowed study management and efficient and reliable collection of phenotypic data. Our novel informatics platform met the requirements of a large, multicenter research project. The platform has had a high level of end-user acceptance by principal investigators and study coordinators, and can serve as a model for new tools to support future large scale, collaborative research projects collecting extensive phenotypic data. Copyright © 2012

  2. Sequencing of a new target genome: the Pediculus humanus humanus (Phthiraptera: Pediculidae) genome project.

    Pittendrigh, B R; Clark, J M; Johnston, J S; Lee, S H; Romero-Severson, J; Dasch, G A

    2006-11-01

    The human body louse, Pediculus humanus humanus (L.), and the human head louse, Pediculus humanus capitis, belong to the hemimetabolous order Phthiraptera. The body louse is the primary vector that transmits the bacterial agents of louse-borne relapsing fever, trench fever, and epidemic typhus. The genomes of the bacterial causative agents of several of these aforementioned diseases have been sequenced. Thus, determining the body louse genome will enhance studies of host-vector-pathogen interactions. Although not important as a major disease vector, head lice are of major social concern. Resistance to traditional pesticides used to control head and body lice have developed. It is imperative that new molecular targets be discovered for the development of novel compounds to control these insects. No complete genome sequence exists for a hemimetabolous insect species primarily because hemimetabolous insects often have large (2000 Mb) to very large (up to 16,300 Mb) genomes. Fortuitously, we determined that the human body louse has one of the smallest genome sizes known in insects, suggesting it may be a suitable choice as a minimal hemimetabolous genome in which many genes have been eliminated during its adaptation to human parasitism. Because many louse species infest birds and mammals, the body louse genome-sequencing project will facilitate studies of their comparative genomics. A 6-8X coverage of the body louse genome, plus sequenced expressed sequence tags, should provide the entomological, evolutionary biology, medical, and public health communities with useful genetic information.

  3. National human genome projects: an update and an agenda

    An, Joon Yong

    2017-01-01

    Population genetic and human genetic studies are being accelerated with genome technology and data sharing. Accordingly, in the past 10 years, several countries have initiated genetic research using genome technology and identified the genetic architecture of the ethnic groups living in the corresponding country or suggested the genetic foundation of a social phenomenon. Genetic research has been conducted from epidemiological studies that previously described the health or disease conditions...

  4. Teaching/Research Project "Wheelmap"

    Gollenstede, Andreas

    2018-05-01

    In recent years new didactic concepts and approaches have been developed and evaluated at the universities. The concept for cartography lectures presented in this article is based on the close link of research and teaching/learning. The students are involved in all essential steps of a scientific project taking place during a series of lectures - beginning with the development of the scientific issues, followed by the choice and execution of the research methods and finally the presentation of the achieved outcomes. The specific project introduced here is based on self-experiments in which students took the perspective of wheelchair users entrusted with the task to map places, which are accessible for people with impairments. Among others, the goal set for the students was to develop an appropriate concept for the mobile acquisition of data and to visualise the final results by different methods of cartography.

  5. Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute’s genomic medicine portfolio

    Manolio, Teri A.

    2016-01-01

    Increasing knowledge about the influence of genetic variation on human health and growing availability of reliable, cost-effective genetic testing have spurred the implementation of genomic medicine in the clinic. As defined by the National Human Genome Research Institute (NHGRI), genomic medicine uses an individual’s genetic information in his or her clinical care, and has begun to be applied effectively in areas such as cancer genomics, pharmacogenomics, and rare and undiagnosed diseases. In 2011 NHGRI published its strategic vision for the future of genomic research, including an ambitious research agenda to facilitate and promote the implementation of genomic medicine. To realize this agenda, NHGRI is consulting and facilitating collaborations with the external research community through a series of “Genomic Medicine Meetings,” under the guidance and leadership of the National Advisory Council on Human Genome Research. These meetings have identified and begun to address significant obstacles to implementation, such as lack of evidence of efficacy, limited availability of genomics expertise and testing, lack of standards, and diffficulties in integrating genomic results into electronic medical records. The six research and dissemination initiatives comprising NHGRI’s genomic research portfolio are designed to speed the evaluation and incorporation, where appropriate, of genomic technologies and findings into routine clinical care. Actual adoption of successful approaches in clinical care will depend upon the willingness, interest, and energy of professional societies, practitioners, patients, and payers to promote their responsible use and share their experiences in doing so. PMID:27612677

  6. Coordinated research projects (CRP). Coordinated research project (CRP)

    Takagi, Hidekazu; Koike, Fumihiro; Nakamura, Nobuyuki

    2013-01-01

    In the present paper, the contribution of Japanese scientists in coordinated research projects on thermonuclear fusion. Representative subjects taken in seven projects are the precise computation of theoretical data on electron-molecule collisions in the peripheral plasma, the computation of spectroscopic data of multi-charged tungsten ions, the spectroscopic measurement of multi-charged tungsten ions using an ion trap device, the development of collisional-radiative model for plasmas including hydrogen and helium, the computational and theoretical studies on the behavior of tungsten and beryllium in the plasma-wall interaction, the study on the property of dusts generated in fusion devices. These subjects are those of most important issues in ITER. (author)

  7. Reconsidering democracy. History of the Human Genome Project.

    Marli Huijer

    2003-01-01

    What options are open for people—citizens, politicians, and other nonscientists—to become actively involved in and anticipate new directions in the life sciences? In addressing this question, this article focuses on the start of the Human Genome Project (1985-1990). By contrasting various models of

  8. The Human Genome Project: Biology, Computers, and Privacy.

    Cutter, Mary Ann G.; Drexler, Edward; Gottesman, Kay S.; Goulding, Philip G.; McCullough, Laurence B.; McInerney, Joseph D.; Micikas, Lynda B.; Mural, Richard J.; Murray, Jeffrey C.; Zola, John

    This module, for high school teachers, is the second of two modules about the Human Genome Project (HGP) produced by the Biological Sciences Curriculum Study (BSCS). The first section of this module provides background information for teachers about the structure and objectives of the HGP, aspects of the science and technology that underlie the…

  9. Reconsidering democracy - History of the human genome project

    Huijer, M

    What options are open for people-citizens, politicians, and other nonscientists-to become actively involved in and anticipate new directions in the life sciences? In addressing this question, this article focuses on the start of the Human Genome Project (1985-1990). By contrasting various models of

  10. Comparing genetic variants detected in the 1000 genomes project ...

    Single-nucleotide polymorphisms (SNPs) determined based on SNP arrays from the international HapMap consortium (HapMap) and the genetic variants detected in the 1000 genomes project (1KGP) can serve as two references for genomewide association studies (GWAS). We conducted comparative analyses to provide ...

  11. Mapping our genes: The genome projects: How big, how fast

    none,

    1988-04-01

    For the past 2 years, scientific and technical journals in biology and medicine have extensively covered a debate about whether and how to determine the function and order of human genes on human chromosomes and when to determine the sequence of molecular building blocks that comprise DNA in those chromosomes. In 1987, these issues rose to become part of the public agenda. The debate involves science, technology, and politics. Congress is responsible for /open quotes/writing the rules/close quotes/ of what various federal agencies do and for funding their work. This report surveys the points made so far in the debate, focusing on those that most directly influence the policy options facing the US Congress. Congressional interest focused on how to assess the rationales for conducting human genome projects, how to fund human genome projects (at what level and through which mechanisms), how to coordinate the scientific and technical programs of the several federal agencies and private interests already supporting various genome projects, and how to strike a balance regarding the impact of genome projects on international scientific cooperation and international economic competition in biotechnology. OTA prepared this report with the assistance of several hundred experts throughout the world. 342 refs., 26 figs., 11 tabs.

  12. Mapping Our Genes: The Genome Projects: How Big, How Fast

    1988-04-01

    For the past 2 years, scientific and technical journals in biology and medicine have extensively covered a debate about whether and how to determine the function and order of human genes on human chromosomes and when to determine the sequence of molecular building blocks that comprise DNA in those chromosomes. In 1987, these issues rose to become part of the public agenda. The debate involves science, technology, and politics. Congress is responsible for ?writing the rules? of what various federal agencies do and for funding their work. This report surveys the points made so far in the debate, focusing on those that most directly influence the policy options facing the US Congress. Congressional interest focused on how to assess the rationales for conducting human genome projects, how to fund human genome projects (at what level and through which mechanisms), how to coordinate the scientific and technical programs of the several federal agencies and private interests already supporting various genome projects, and how to strike a balance regarding the impact of genome projects on international scientific cooperation and international economic competition in biotechnology. The Office of Technology Assessment (OTA) prepared this report with the assistance of several hundred experts throughout the world.

  13. The pig genome project has plenty to squeal about.

    Fan, B; Gorbach, D M; Rothschild, M F

    2011-01-01

    Significant progress on pig genetics and genomics research has been witnessed in recent years due to the integration of advanced molecular biology techniques, bioinformatics and computational biology, and the collaborative efforts of researchers in the swine genomics community. Progress on expanding the linkage map has slowed down, but the efforts have created a higher-resolution physical map integrating the clone map and BAC end sequence. The number of QTL mapped is still growing and most of the updated QTL mapping results are available through PigQTLdb. Additionally, expression studies using high-throughput microarrays and other gene expression techniques have made significant advancements. The number of identified non-coding RNAs is rapidly increasing and their exact regulatory functions are being explored. A publishable draft (build 10) of the swine genome sequence was available for the pig genomics community by the end of December 2010. Build 9 of the porcine genome is currently available with Ensembl annotation; manual annotation is ongoing. These drafts provide useful tools for such endeavors as comparative genomics and SNP scans for fine QTL mapping. A recent community-wide effort to create a 60K porcine SNP chip has greatly facilitated whole-genome association analyses, haplotype block construction and linkage disequilibrium mapping, which can contribute to whole-genome selection. The future 'systems biology' that integrates and optimizes the information from all research levels can enhance the pig community's understanding of the full complexity of the porcine genome. These recent technological advances and where they may lead are reviewed. Copyright © 2011 S. Karger AG, Basel.

  14. Coordinated international action to accelerate genome-to-phenome with FAANG, the Functional Annotation of Animal Genomes project : open letter

    Archibald, A.L.; Bottema, C.D.; Brauning, R.; Burgess, S.C.; Burt, D.W.; Casas, E.; Cheng, H.H.; Clarke, L.; Couldrey, C.; Dalrymple, B.P.; Elsik, C.G.; Foissac, S.; Giuffra, E.; Groenen, M.A.M.; Hayes, B.J.; Huang, L.S.; Khatib, H.; Kijas, J.W.; Kim, H.; Lunney, J.K.; McCarthy, F.M.; McEwan, J.; Moore, S.; Nanduri, B.; Notredame, C.; Palti, Y.; Plastow, G.S.; Reecy, J.M.; Rohrer, G.; Sarropoulou, E.; Schmidt, C.J.; Silverstein, J.; Tellam, R.L.; Tixier-Boichard, M.; Tosser-klopp, G.; Tuggle, C.K.; Vilkki, J.; White, S.N.; Zhao, S.; Zhou, H.

    2015-01-01

    We describe the organization of a nascent international effort, the Functional Annotation of Animal Genomes (FAANG) project, whose aim is to produce comprehensive maps of functional elements in the genomes of domesticated animal species.

  15. Revisiting Respect for Persons in Genomic Research

    Debra J. H. Mathews

    2014-01-01

    Full Text Available The risks and benefits of research using large databases of personal information are evolving in an era of ubiquitous, internet-based data exchange. In addition, information technology has facilitated a shift in the relationship between individuals and their personal data, enabling increased individual control over how (and how much personal data are used in research, and by whom. This shift in control has created new opportunities to engage members of the public as partners in the research enterprise on more equal and transparent terms. Here, we consider how some of the technological advances driving and paralleling developments in genomics can also be used to supplement the practice of informed consent with other strategies to ensure that the research process as a whole honors the notion of respect for persons upon which human research subjects protections are premised. Further, we suggest that technological advances can help the research enterprise achieve a more thoroughgoing respect for persons than was possible when current policies governing human subject research were developed. Questions remain about the best way to revise policy to accommodate these changes.

  16. Functional food ingredients against colorectal cancer. An example project integrating functional genomics, nutrition and health

    Stierum, R.; Burgemeister, R.; Helvoort, van A.; Peijnenburg, A.; Schütze, K.; Seidelin, M.; Vang, O.; Ommen, van B.

    2001-01-01

    Functional Food Ingredients Against Colorectal Cancer is one of the first European Union funded Research Projects at the cross-road of functional genomics [comprising transcriptomics, the measurement of the expression of all messengers RNA (mRNAs) and proteomics, the measurement of expression/state

  17. The African Genome Variation Project shapes medical genetics in Africa.

    Gurdasani, Deepti; Carstensen, Tommy; Tekola-Ayele, Fasil; Pagani, Luca; Tachmazidou, Ioanna; Hatzikotoulas, Konstantinos; Karthikeyan, Savita; Iles, Louise; Pollard, Martin O; Choudhury, Ananyo; Ritchie, Graham R S; Xue, Yali; Asimit, Jennifer; Nsubuga, Rebecca N; Young, Elizabeth H; Pomilla, Cristina; Kivinen, Katja; Rockett, Kirk; Kamali, Anatoli; Doumatey, Ayo P; Asiki, Gershim; Seeley, Janet; Sisay-Joof, Fatoumatta; Jallow, Muminatou; Tollman, Stephen; Mekonnen, Ephrem; Ekong, Rosemary; Oljira, Tamiru; Bradman, Neil; Bojang, Kalifa; Ramsay, Michele; Adeyemo, Adebowale; Bekele, Endashaw; Motala, Ayesha; Norris, Shane A; Pirie, Fraser; Kaleebu, Pontiano; Kwiatkowski, Dominic; Tyler-Smith, Chris; Rotimi, Charles; Zeggini, Eleftheria; Sandhu, Manjinder S

    2015-01-15

    Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterization of African genetic diversity is needed. The African Genome Variation Project provides a resource with which to design, implement and interpret genomic studies in sub-Saharan Africa and worldwide. The African Genome Variation Project represents dense genotypes from 1,481 individuals and whole-genome sequences from 320 individuals across sub-Saharan Africa. Using this resource, we find novel evidence of complex, regionally distinct hunter-gatherer and Eurasian admixture across sub-Saharan Africa. We identify new loci under selection, including loci related to malaria susceptibility and hypertension. We show that modern imputation panels (sets of reference genotypes from which unobserved or missing genotypes in study sets can be inferred) can identify association signals at highly differentiated loci across populations in sub-Saharan Africa. Using whole-genome sequencing, we demonstrate further improvements in imputation accuracy, strengthening the case for large-scale sequencing efforts of diverse African haplotypes. Finally, we present an efficient genotype array design capturing common genetic variation in Africa.

  18. The African Genome Variation Project shapes medical genetics in Africa

    Gurdasani, Deepti; Carstensen, Tommy; Tekola-Ayele, Fasil; Pagani, Luca; Tachmazidou, Ioanna; Hatzikotoulas, Konstantinos; Karthikeyan, Savita; Iles, Louise; Pollard, Martin O.; Choudhury, Ananyo; Ritchie, Graham R. S.; Xue, Yali; Asimit, Jennifer; Nsubuga, Rebecca N.; Young, Elizabeth H.; Pomilla, Cristina; Kivinen, Katja; Rockett, Kirk; Kamali, Anatoli; Doumatey, Ayo P.; Asiki, Gershim; Seeley, Janet; Sisay-Joof, Fatoumatta; Jallow, Muminatou; Tollman, Stephen; Mekonnen, Ephrem; Ekong, Rosemary; Oljira, Tamiru; Bradman, Neil; Bojang, Kalifa; Ramsay, Michele; Adeyemo, Adebowale; Bekele, Endashaw; Motala, Ayesha; Norris, Shane A.; Pirie, Fraser; Kaleebu, Pontiano; Kwiatkowski, Dominic; Tyler-Smith, Chris; Rotimi, Charles; Zeggini, Eleftheria; Sandhu, Manjinder S.

    2015-01-01

    Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterization of African genetic diversity is needed. The African Genome Variation Project provides a resource with which to design, implement and interpret genomic studies in sub-Saharan Africa and worldwide. The African Genome Variation Project represents dense genotypes from 1,481 individuals and whole-genome sequences from 320 individuals across sub-Saharan Africa. Using this resource, we find novel evidence of complex, regionally distinct hunter-gatherer and Eurasian admixture across sub-Saharan Africa. We identify new loci under selection, including loci related to malaria susceptibility and hypertension. We show that modern imputation panels (sets of reference genotypes from which unobserved or missing genotypes in study sets can be inferred) can identify association signals at highly differentiated loci across populations in sub-Saharan Africa. Using whole-genome sequencing, we demonstrate further improvements in imputation accuracy, strengthening the case for large-scale sequencing efforts of diverse African haplotypes. Finally, we present an efficient genotype array design capturing common genetic variation in Africa.

  19. Experimental plasma research project summaries

    1992-06-01

    This is the latest in a series of Project Summary books going back to 1976 and is the first after a hiatus of several years. They are published to provide a short description of each project supported by the Experimental Plasma Research Branch of the Division of Applied Plasma Physics in the Office of Fusion Energy. The Experimental Plasma Research Branch seeks to provide a broad range of experimental data, physics understanding, and new experimental techniques that contribute to operation, interpretation, and improvement of high temperature plasma as a source of fusion energy. In pursuit of these objectives, the branch supports research at universities, DOE laboratories, other federal laboratories and industry. About 70 percent of the funds expended are spent at universities and a significant function of this program is the training of students in fusion physics. The branch supports small- and medium-scale experimental studies directly related to specific critical plasma issues of the magnetic fusion program. Plasma physics experiments are conducted on transport of particles and energy within plasma and innovative approaches for operating, controlling, and heating plasma are evaluated for application to the larger confinement devices of the magnetic fusion program. New diagnostic approaches to measuring the properties of high temperature plasmas are developed to the point where they can be applied with confidence on the large-scale confinement experiments. Atomic data necessary for impurity control, interpretation of diagnostic data, development of heating devices, and analysis of cooling by impurity ion radiation are obtained. The project summaries are grouped into these three categories of plasma physics, diagnostic development and atomic physics

  20. The Qatar genome project: translation of whole-genome sequencing into clinical practice.

    Zayed, Hatem

    2016-10-01

    Qatar Genome Project was launched in 2013 with the intent to sequence the genome of each Qatari citizen in an effort to protect Qataris from the high rate of indigenous genetic diseases by allowing the mapping of disease-causing variants/rare variants and establishing a Qatari reference genome. Indeed, this project is expected to have numerous global benefits because the elevated homogeneity of the Qatari population, that will make Qatar an excellent genetic laboratory that will generate a wealth of data that will allow us to make sense of the genotype-phenotype correlations of many diseases, especially the complex multifactorial diseases, and will pave the way for changing the traditional medical practice of looking first at the phenotype rather than the genotype. © 2016 John Wiley & Sons Ltd.

  1. Research project at Nagoya University

    Furukawa, M.; Nakai, N.; Nakano, E.

    1981-01-01

    We will have a dedicated facility from General Ionex Corporation at the Radioisotope Center of Nagoya Univeriy in 1981 FY. The building to install the machine was already completed in March 1981. We have held meetings of potential users of the facility and various research proposals have been presented by the participants from many departments of the university. The present research project at Nagoya is mainly devoted to the development of radiocarbon dating by the accelerator mass spectrometry, in which most of the users are interested. There are many archeological and geological samples in Japan which have too little carbon compounds for analysis by conventional radioactivity measurements. Concentrations of 14 C in these samples can be determined by the new technique. Some of the proposals connected with radiocarbon measurements are discussed

  2. Management of research and development project

    Go, Seok Hwa; Hong Jeong Yu; Hyun, Byeong Hwan

    2010-12-01

    This book introduces summary on management of research and development project, prepare of research and development with investigation and analysis of paper, patent and trend of technology, structure of project, management model, management of project, management of project range, management of project time, management of project cost, management of project goods, management of project manpower, management of communication, management of project risk, management of project supply, management of outcome of R and D, management of apply and enroll of patent and management of technology transfer.

  3. A bibliometric analysis of global research on genome sequencing ...

    The results show that disease and protein related researches were the leading research focuses, and comparative genomics and evolution related research had strong potential in the near future. Key words: Genome sequencing, research trend, scientometrics, science citation index expanded (SCI-Expanded), word cluster ...

  4. The African Genome Variation Project shapes medical genetics in Africa

    Gurdasani, Deepti; Carstensen, Tommy; Tekola-Ayele, Fasil; Pagani, Luca; Tachmazidou, Ioanna; Hatzikotoulas, Konstantinos; Karthikeyan, Savita; Iles, Louise; Pollard, Martin O.; Choudhury, Ananyo; Ritchie, Graham R. S.; Xue, Yali; Asimit, Jennifer; Nsubuga, Rebecca N.; Young, Elizabeth H.; Pomilla, Cristina; Kivinen, Katja; Rockett, Kirk; Kamali, Anatoli; Doumatey, Ayo P.; Asiki, Gershim; Seeley, Janet; Sisay-Joof, Fatoumatta; Jallow, Muminatou; Tollman, Stephen; Mekonnen, Ephrem; Ekong, Rosemary; Oljira, Tamiru; Bradman, Neil; Bojang, Kalifa; Ramsay, Michele; Adeyemo, Adebowale; Bekele, Endashaw; Motala, Ayesha; Norris, Shane A.; Pirie, Fraser; Kaleebu, Pontiano; Kwiatkowski, Dominic; Tyler-Smith, Chris; Rotimi, Charles; Zeggini, Eleftheria; Sandhu, Manjinder S.

    2014-01-01

    Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterisation of African genetic diversity is needed. The African Genome Variation Project (AGVP) provides a resource to help design, implement and interpret genomic studies in sub-Saharan Africa (SSA) and worldwide. The AGVP represents dense genotypes from 1,481 and whole genome sequences (WGS) from 320 individuals across SSA. Using this resource, we find novel evidence of complex, regionally distinct hunter-gatherer and Eurasian admixture across SSA. We identify new loci under selection, including for malaria and hypertension. We show that modern imputation panels can identify association signals at highly differentiated loci across populations in SSA. Using WGS, we show further improvement in imputation accuracy supporting efforts for large-scale sequencing of diverse African haplotypes. Finally, we present an efficient genotype array design capturing common genetic variation in Africa, showing for the first time that such designs are feasible. PMID:25470054

  5. What does it mean to be genomically literate?: National Human Genome Research Institute Meeting Report.

    Hurle, Belen; Citrin, Toby; Jenkins, Jean F; Kaphingst, Kimberly A; Lamb, Neil; Roseman, Jo Ellen; Bonham, Vence L

    2013-08-01

    Genomic discoveries will increasingly advance the science of medicine. Limited genomic literacy may adversely impact the public's understanding and use of the power of genetics and genomics in health care and public health. In November 2011, a meeting was held by the National Human Genome Research Institute to examine the challenge of achieving genomic literacy for the general public, from kindergarten to grade 12 to adult education. The role of the media in disseminating scientific messages and in perpetuating or reducing misconceptions was also discussed. Workshop participants agreed that genomic literacy will be achieved only through active engagement between genomics experts and the varied constituencies that comprise the public. This report summarizes the background, content, and outcomes from this meeting, including recommendations for a research agenda to inform decisions about how to advance genomic literacy in our society.

  6. nGASP - the nematode genome annotation assessment project

    Coghlan, A; Fiedler, T J; McKay, S J; Flicek, P; Harris, T W; Blasiar, D; Allen, J; Stein, L D

    2008-12-19

    While the C. elegans genome is extensively annotated, relatively little information is available for other Caenorhabditis species. The nematode genome annotation assessment project (nGASP) was launched to objectively assess the accuracy of protein-coding gene prediction software in C. elegans, and to apply this knowledge to the annotation of the genomes of four additional Caenorhabditis species and other nematodes. Seventeen groups worldwide participated in nGASP, and submitted 47 prediction sets for 10 Mb of the C. elegans genome. Predictions were compared to reference gene sets consisting of confirmed or manually curated gene models from WormBase. The most accurate gene-finders were 'combiner' algorithms, which made use of transcript- and protein-alignments and multi-genome alignments, as well as gene predictions from other gene-finders. Gene-finders that used alignments of ESTs, mRNAs and proteins came in second place. There was a tie for third place between gene-finders that used multi-genome alignments and ab initio gene-finders. The median gene level sensitivity of combiners was 78% and their specificity was 42%, which is nearly the same accuracy as reported for combiners in the human genome. C. elegans genes with exons of unusual hexamer content, as well as those with many exons, short exons, long introns, a weak translation start signal, weak splice sites, or poorly conserved orthologs were the most challenging for gene-finders. While the C. elegans genome is extensively annotated, relatively little information is available for other Caenorhabditis species. The nematode genome annotation assessment project (nGASP) was launched to objectively assess the accuracy of protein-coding gene prediction software in C. elegans, and to apply this knowledge to the annotation of the genomes of four additional Caenorhabditis species and other nematodes. Seventeen groups worldwide participated in nGASP, and submitted 47 prediction sets for 10 Mb of the C

  7. Prospects for Genomic Research in Forestry

    K. V. Krutovsky

    2014-08-01

    Full Text Available Conifers are keystone species of boreal forests. Their whole genome sequencing, assembly and annotation will allow us to understand the evolution of the complex ancient giant conifer genomes that are 4 times larger in larch and 7–9 times larger in pines than the human genome. Genomic studies will allow also to obtain important whole genome sequence data and develop highly polymorphic and informative genetic markers, such as microsatellites and single nucleotide polymorphisms (SNPs that can be efficiently used in timber origin identification, for genetic variation monitoring, to study local and climate change adaptation and in tree improvement and conservation programs.

  8. The Human Genome Diversity (HGD) Project. Summary document

    NONE

    1993-12-31

    In 1991 a group of human geneticists and molecular biologists proposed to the scientific community that a world wide survey be undertaken of variation in the human genome. To aid their considerations, the committee therefore decided to hold a small series of international workshops to explore the major scientific issues involved. The intention was to define a framework for the project which could provide a basis for much wider and more detailed discussion and planning--it was recognized that the successful implementation of the proposed project, which has come to be known as the Human Genome Diversity (HGD) Project, would not only involve scientists but also various national and international non-scientific groups all of which should contribute to the project`s development. The international HGD workshop held in Sardinia in September 1993 was the last in the initial series of planning workshops. As such it not only explored new ground but also pulled together into a more coherent form much of the formal and informal discussion that had taken place in the preceding two years. This report presents the deliberations of the Sardinia workshop within a consideration of the overall development of the HGD Project to date.

  9. Australia's replacement research reactor project

    Harris, K.J.

    1999-01-01

    HIFAR, a 10 MW tank type DIDO Class reactor has operated at the Lucas Heights Science and Technology Centre for 43 years. HIFAR and the 10 kW Argonaut reactor 'Moata' which is in the Care and Maintenance phase of decommissioning are Australia's only nuclear reactors. The initial purpose for HIFAR was for materials testing to support a nuclear power program. Changing community attitude through the 1970's and a Government decision not to proceed with a planned nuclear power reactor resulted in a reduction of materials testing activities and a greater emphasis being placed on neutron beam research and the production of radioisotopes, particularly for medical purposes. HIFAR is not fully capable of satisfying the expected increase in demand for medical radiopharmaceuticals beyond the next 5 years and the radial configuration of the beam tubes severely restricts the scope and efficiency of neutron beam research. In 1997 the Australian Government decided that a replacement research reactor should be built by the Australian Nuclear Science and Technology Organisation at Lucas Heights subject to favourable results of an Environmental Impact Study. The Ei identified no reasons on the grounds of safety, health, hazard or risk to prevent construction on the preferred site and it was decided in May 1999 that there were no environmental reasons why construction of the facility should not proceed. In recent years ANSTO has been reviewing the operation of HIFAR and observing international developments in reactor technology. Limitations in the flexibility and efficiency achievable in operation of a tank type reactor and the higher intrinsic safety sought in fundamental design resulted in an early decision that the replacement reactor must be a pool type having cleaner and higher intensity tangential neutron beams of wider energy range than those available from HIFAR. ANSTO has chosen to use it's own resources supported by specialised external knowledge and experience to identify

  10. Using community-based participatory research principles to develop more understandable recruitment and informed consent documents in genomic research.

    Harlyn G Skinner

    Full Text Available Heart Healthy Lenoir is a transdisciplinary project aimed at creating long-term, sustainable approaches to reduce cardiovascular disease risk disparities in Lenoir County, North Carolina using a design spanning genomic analysis and clinical intervention. We hypothesized that residents of Lenoir County would be unfamiliar and mistrustful of genomic research, and therefore reluctant to participate; additionally, these feelings would be higher in African-Americans.To test our hypothesis, we conducted qualitative research using community-based participatory research principles to ensure our genomic research strategies addressed the needs, priorities, and concerns of the community. African-American (n = 19 and White (n = 16 adults in Lenoir County participated in four focus groups exploring perceptions about genomics and cardiovascular disease. Demographic surveys were administered and a semi-structured interview guide was used to facilitate discussions. The discussions were digitally recorded, transcribed verbatim, and analyzed in ATLAS.ti.From our analysis, key themes emerged: transparent communication, privacy, participation incentives and barriers, knowledge, and the impact of knowing. African-Americans were more concerned about privacy and community impact compared to Whites, however, African-Americans were still eager to participate in our genomic research project. The results from our formative study were used to improve the informed consent and recruitment processes by: 1 reducing misconceptions of genomic studies; and 2 helping to foster participant understanding and trust with the researchers. Our study demonstrates how community-based participatory research principles can be used to gain deeper insight into the community and increase participation in genomic research studies. Due in part to these efforts 80.3% of eligible African-American participants and 86.9% of eligible White participants enrolled in the Heart Healthy Lenoir Genomics

  11. [The research project: financing and management].

    Schena, F P

    2003-01-01

    Basic and clinical research is accomplished by projects. The design of a project is not only based on the scientific content but also on its financing and management. This article wants to illustrate the correct modalities for project financing and project management in a scientific project.

  12. The IGNITE network: a model for genomic medicine implementation and research.

    Weitzel, Kristin Wiisanen; Alexander, Madeline; Bernhardt, Barbara A; Calman, Neil; Carey, David J; Cavallari, Larisa H; Field, Julie R; Hauser, Diane; Junkins, Heather A; Levin, Phillip A; Levy, Kenneth; Madden, Ebony B; Manolio, Teri A; Odgis, Jacqueline; Orlando, Lori A; Pyeritz, Reed; Wu, R Ryanne; Shuldiner, Alan R; Bottinger, Erwin P; Denny, Joshua C; Dexter, Paul R; Flockhart, David A; Horowitz, Carol R; Johnson, Julie A; Kimmel, Stephen E; Levy, Mia A; Pollin, Toni I; Ginsburg, Geoffrey S

    2016-01-05

    Patients, clinicians, researchers and payers are seeking to understand the value of using genomic information (as reflected by genotyping, sequencing, family history or other data) to inform clinical decision-making. However, challenges exist to widespread clinical implementation of genomic medicine, a prerequisite for developing evidence of its real-world utility. To address these challenges, the National Institutes of Health-funded IGNITE (Implementing GeNomics In pracTicE; www.ignite-genomics.org ) Network, comprised of six projects and a coordinating center, was established in 2013 to support the development, investigation and dissemination of genomic medicine practice models that seamlessly integrate genomic data into the electronic health record and that deploy tools for point of care decision making. IGNITE site projects are aligned in their purpose of testing these models, but individual projects vary in scope and design, including exploring genetic markers for disease risk prediction and prevention, developing tools for using family history data, incorporating pharmacogenomic data into clinical care, refining disease diagnosis using sequence-based mutation discovery, and creating novel educational approaches. This paper describes the IGNITE Network and member projects, including network structure, collaborative initiatives, clinical decision support strategies, methods for return of genomic test results, and educational initiatives for patients and providers. Clinical and outcomes data from individual sites and network-wide projects are anticipated to begin being published over the next few years. The IGNITE Network is an innovative series of projects and pilot demonstrations aiming to enhance translation of validated actionable genomic information into clinical settings and develop and use measures of outcome in response to genome-based clinical interventions using a pragmatic framework to provide early data and proofs of concept on the utility of these

  13. Ethical challenges and innovations in the dissemination of genomic data: the experience of the PERSPECTIVE project

    Lévesque E

    2015-08-01

    Full Text Available Emmanuelle Lévesque,1 Bartha Maria Knoppers,1 Jacques Simard,2 1Department of Human Genetics, Centre for Genomics and Policy, McGill University, Montréal, 2Genomics Centre, CHU de Québec Research Center, Department of Molecular Medicine, Laval University, Québec City, QC, Canada Abstract: The importance of making genomic data available for future research is now widely recognized among the scientific community and policymakers. In this era of shared responsibility for data dissemination, improved patient care through research depends on the development of powerful and secure data-sharing systems. As part of the concerted effort to share research resources, the project entitled Personalized Risk Stratification for Prevention and Early Detection of Breast Cancer (PERSPECTIVE makes effective data sharing through the development of a data-sharing framework, one of its goals. The secondary uses of data from PERSPECTIVE for future research promise to enhance our knowledge of breast cancer etiologies without duplicating data-gathering efforts. Despite its benefit for research, we recognize the ethical challenges of data sharing on the local, national, and international levels. The effective management of ethical approvals for projects spanning across jurisdictions, the return of results to research participants, and research incentives and recognition for data production, are but a few pressing issues that need to be properly addressed. We discuss how we managed these issues and suggest how ongoing innovations might help to facilitate data sharing in future genomic research projects. Keywords: data sharing, research ethics, cancer

  14. Alignment of 1000 Genomes Project reads to reference assembly GRCh38.

    Zheng-Bradley, Xiangqun; Streeter, Ian; Fairley, Susan; Richardson, David; Clarke, Laura; Flicek, Paul

    2017-07-01

    The 1000 Genomes Project produced more than 100 trillion basepairs of short read sequence from more than 2600 samples in 26 populations over a period of five years. In its final phase, the project released over 85 million genotyped and phased variants on human reference genome assembly GRCh37. An updated reference assembly, GRCh38, was released in late 2013, but there was insufficient time for the final phase of the project analysis to change to the new assembly. Although it is possible to lift the coordinates of the 1000 Genomes Project variants to the new assembly, this is a potentially error-prone process as coordinate remapping is most appropriate only for non-repetitive regions of the genome and those that did not see significant change between the two assemblies. It will also miss variants in any region that was newly added to GRCh38. Thus, to produce the highest quality variants and genotypes on GRCh38, the best strategy is to realign the reads and recall the variants based on the new alignment. As the first step of variant calling for the 1000 Genomes Project data, we have finished remapping all of the 1000 Genomes sequence reads to GRCh38 with alternative scaffold-aware BWA-MEM. The resulting alignments are available as CRAM, a reference-based sequence compression format. The data have been released on our FTP site and are also available from European Nucleotide Archive to facilitate researchers discovering variants on the primary sequences and alternative contigs of GRCh38. © The Authors 2017. Published by Oxford University Press.

  15. Genotype Imputation for Latinos Using the HapMap and 1000 Genomes Project Reference Panels

    Xiaoyi eGao

    2012-06-01

    Full Text Available Genotype imputation is a vital tool in genome-wide association studies (GWAS and meta-analyses of multiple GWAS results. Imputation enables researchers to increase genomic coverage and to pool data generated using different genotyping platforms. HapMap samples are often employed as the reference panel. More recently, the 1000 Genomes Project resource is becoming the primary source for reference panels. Multiple GWAS and meta-analyses are targeting Latinos, the most populous and fastest growing minority group in the US. However, genotype imputation resources for Latinos are rather limited compared to individuals of European ancestry at present, largely because of the lack of good reference data. One choice of reference panel for Latinos is one derived from the population of Mexican individuals in Los Angeles contained in the HapMap Phase 3 project and the 1000 Genomes Project. However, a detailed evaluation of the quality of the imputed genotypes derived from the public reference panels has not yet been reported. Using simulation studies, the Illumina OmniExpress GWAS data from the Los Angles Latino Eye Study and the MACH software package, we evaluated the accuracy of genotype imputation in Latinos. Our results show that the 1000 Genomes Project AMR+CEU+YRI reference panel provides the highest imputation accuracy for Latinos, and that also including Asian samples in the panel can reduce imputation accuracy. We also provide the imputation accuracy for each autosomal chromosome using the 1000 Genomes Project panel for Latinos. Our results serve as a guide to future imputation-based analysis in Latinos.

  16. The research progress of genomic selection in livestock.

    Li, Hong-wei; Wang, Rui-jun; Wang, Zhi-ying; Li, Xue-wu; Wang, Zhen-yu; Yanjun, Zhang; Rui, Su; Zhihong, Liu; Jinquan, Li

    2017-05-20

    With the development of gene chip and breeding technology, genomic selection in plants and animals has become research hotspots in recent years. Genomic selection has been extensively applied to all kinds of economic livestock, due to its high accuracy, short generation intervals and low breeding costs. In this review, we summarize genotyping technology and the methods for genomic breeding value estimation, the latter including the least square method, RR-BLUP, GBLUP, ssGBLUP, BayesA and BayesB. We also cover basic principles of genomic selection and compare their genetic marker ranges, genomic selection accuracy and operational speed. In addition, we list common indicators, methods and influencing factors that are related to genomic selection accuracy. Lastly, we discuss latest applications and the current problems of genomic selection at home and abroad. Importantly, we envision future status of genomic selection research, including multi-trait and multi-population genomic selection, as well as impact of whole genome sequencing and dominant effects on genomic selection. This review will provide some venues for other breeders to further understand genome selection.

  17. Adapting Project Management Practices to Research-Based Projects

    Bahr, P.; Baker, T.; Corbin, B.; Keith, L.; Loerch, L.; Mullenax, C.; Myers, R.; Rhodes, B.; Skytland, N.

    2007-01-01

    From dealing with the inherent uncertainties in outcomes of scientific research to the lack of applicability of current NASA Procedural Requirements guidance documentation, research-based projects present challenges that require unique application of classical project management techniques. If additionally challenged by the creation of a new program transitioning from basic to applied research in a technical environment often unfamiliar with the cost and schedule constraints addressed by project management practices, such projects can find themselves struggling throughout their life cycles. Finally, supplying deliverables to a prime vehicle customer, also in the formative stage, adds further complexity to the development and management of research-based projects. The Biomedical Research and Countermeasures Projects Branch at NASA Johnson Space Center encompasses several diverse applied research-based or research-enabling projects within the newly-formed Human Research Program. This presentation will provide a brief overview of the organizational structure and environment in which these projects operate and how the projects coordinate to address and manage technical requirements. We will identify several of the challenges (cost, technical, schedule, and personnel) encountered by projects across the Branch, present case reports of actions taken and techniques implemented to deal with these challenges, and then close the session with an open forum discussion of remaining challenges and potential mitigations.

  18. Researchers' preferences and attitudes on ethical aspects of genomics research: a comparative study between the USA and Spain.

    Ruiz-Canela, M; Valle-Mansilla, J I; Sulmasy, D P

    2009-04-01

    The use of human samples in genomic research has increased ethical debate about informed consent (IC) requirements and the information that subjects should receive regarding the results of the research. However, there are no quantitative data regarding researchers' attitudes about these issues. We present the results of a survey of 104 US and 100 Spanish researchers who had published genomic epidemiology studies in 61 journals during 2006. Researchers preferred a broader IC than the IC they had actually obtained in their published papers. US authors were more likely than their Spanish colleagues to support obtaining a broad IC, covering either any future research project or any projects related to a group of diseases (67.6% vs 43%; adjusted OR = 4.84, 95% CI, 2.32 to 10.12). A slight majority of researchers (55.8%) supported informing participants about individual genomic results only if the reliability and clinical validity of the information had been established. Men were more likely than women to believe that patients should be informed of research results even if these conditions were not met (adjusted OR = 2.89, 95% CI = 1.46 to 5.72). This study provides evidence of a wide range of views among scientists regarding some controversial ethical issues related to genomic research, suggesting the need for more study, debate and education. In the interim, journals might consider including the investigators' policies regarding these ethical issues in the papers they publish in the field of genomic epidemiology.

  19. Merging genomic and phenomic data for research and clinical impact.

    Shublaq, Nour W; Coveney, Peter V

    2012-01-01

    Driven primarily by advances in genomics, pharmacogenomics and systems biology technologies, large amounts of genomic and phenomic data are today being collected on individuals worldwide. Integrative analysis, mining, and computer modeling of these data, facilitated by information technology, have led to the development of predictive, preventive, and personalized medicine. This transformative approach holds the potential inter alia to enable future general practitioners and physicians to prescribe the right drug to the right patient at the right dosage. For such patient-specific medicine to be adopted as standard clinical practice, publicly accumulated knowledge of genes, proteins, molecular functional annotations, and interactions need to be unified and with electronic health records including phenotypic information, most of which still reside as paper-based records in hospitals. We review the state-of-the-art in terms of electronic data capture and medical data standards. Some of these activities are drawn from research projects currently being performed within the European Virtual Physiological Human (VPH) initiative; all are being monitored by the VPH INBIOMEDvision Consortium. Various ethical, legal and societal issues linked with privacy will increasingly arise in the post-genomic era. This will require a closer interaction between the bioinformatics/systems biology and medical informatics/healthcare communities. Planning for how individuals will own their personal health records is urgently needed, as the cost of sequencing a whole human genome will soon be less than U.S. $100. We discuss some of the issues that will need to be addressed by society as a result of this revolution in healthcare.

  20. MAKER2: an annotation pipeline and genome-database management tool for second-generation genome projects.

    Holt, Carson; Yandell, Mark

    2011-12-22

    Second-generation sequencing technologies are precipitating major shifts with regards to what kinds of genomes are being sequenced and how they are annotated. While the first generation of genome projects focused on well-studied model organisms, many of today's projects involve exotic organisms whose genomes are largely terra incognita. This complicates their annotation, because unlike first-generation projects, there are no pre-existing 'gold-standard' gene-models with which to train gene-finders. Improvements in genome assembly and the wide availability of mRNA-seq data are also creating opportunities to update and re-annotate previously published genome annotations. Today's genome projects are thus in need of new genome annotation tools that can meet the challenges and opportunities presented by second-generation sequencing technologies. We present MAKER2, a genome annotation and data management tool designed for second-generation genome projects. MAKER2 is a multi-threaded, parallelized application that can process second-generation datasets of virtually any size. We show that MAKER2 can produce accurate annotations for novel genomes where training-data are limited, of low quality or even non-existent. MAKER2 also provides an easy means to use mRNA-seq data to improve annotation quality; and it can use these data to update legacy annotations, significantly improving their quality. We also show that MAKER2 can evaluate the quality of genome annotations, and identify and prioritize problematic annotations for manual review. MAKER2 is the first annotation engine specifically designed for second-generation genome projects. MAKER2 scales to datasets of any size, requires little in the way of training data, and can use mRNA-seq data to improve annotation quality. It can also update and manage legacy genome annotation datasets.

  1. [Genomic research of traditional Chinese medicines in vivo metabolism].

    Xiao, Shui-Ming; Bai, Rui; Zhang, Xiao-Yan

    2016-11-01

    Gene is the base of in vivo metabolism and effectiveness for traditional Chinese medicines (TCM), and the gene expression, regulation and modification are used as the research directions to perform the TCM multi-component, multi-link and multi-target in vivo metabolism studies, which will improve the research on TCM metabolic proecess, effect target and molecular mechanism. Humans are superorganisms with 1% genes inherited from parents and 99% genes from various parts of the human body, mainly coming from the microorganisms in intestinal flora. These indicate that genetically inherited human genome and "second genome" could affect the TCM in vivo metabolism from inheritance and "environmental" aspects respectively. In the present paper, typical case study was used to discuss related TCM in vivo metabolic genomics research, mainly including TCM genomics research and gut metagenomics research, as well as the personalized medicine evoked from the individual difference of above genomics (metagenomics). Copyright© by the Chinese Pharmaceutical Association.

  2. Mapping the Ethics of Translational Genomics: Situating Return of Results and Navigating the Research-Clinical Divide

    Wolf, Susan M.; Burke, Wylie; Koenig, Barbara A.

    2015-01-01

    Both bioethics and law have governed human genomics by distinguishing research from clinical practice. Yet the rise of translational genomics now makes this traditional dichotomy inadequate. This paper pioneers a new approach to the ethics of translational genomics. It maps the full range of ethical approaches needed, proposes a “layered” approach to determining the ethics framework for projects combining research and clinical care, and clarifies the key role that return of results can play in advancing translation. PMID:26479558

  3. Advanced Energy Projects FY 1990 research summaries

    1990-09-01

    This report serves as a guide to prepare proposals and provides summaries of the research projects active in FY 1990, sponsored by the Office of Basic Energy Sciences Division of Advanced Energy Projects, Department of Energy. (JF)

  4. NCDP Research Projects and Research Supported Projects (June ...

    Amal Ben Ameur

    prevent non-communicable diseases in India. 139,600. India. Asia ... Building the field of research on non- ... Assessing the attitudes and practices of public ... Tobacco control Research on health costs of smoking in Cambodia. 14,800.

  5. Documenting genomics: Applying archival theory to preserving the records of the Human Genome Project.

    Shaw, Jennifer

    2016-02-01

    The Human Genome Archive Project (HGAP) aimed to preserve the documentary heritage of the UK's contribution to the Human Genome Project (HGP) by using archival theory to develop a suitable methodology for capturing the results of modern, collaborative science. After assessing past projects and different archival theories, the HGAP used an approach based on the theory of documentation strategy to try to capture the records of a scientific project that had an influence beyond the purely scientific sphere. The HGAP was an archival survey that ran for two years. It led to ninety scientists being contacted and has, so far, led to six collections being deposited in the Wellcome Library, with additional collections being deposited in other UK repositories. In applying documentation strategy the HGAP was attempting to move away from traditional archival approaches to science, which have generally focused on retired Nobel Prize winners. It has been partially successful in this aim, having managed to secure collections from people who are not 'big names', but who made an important contribution to the HGP. However, the attempt to redress the gender imbalance in scientific collections and to improve record-keeping in scientific organisations has continued to be difficult to achieve. Copyright © 2015 The Author. Published by Elsevier Ltd.. All rights reserved.

  6. Innovative finance : strategic research project.

    2013-08-01

    Its time to rethink how we fund transportation infrastructure because most transportation : experts agree: theres a transportation funding and financing crisis looming. : Projected revenues from current sources of transportation funding will am...

  7. An O-"fish"-ial Research Project

    Newman, James; Krustchinsky, Rick; Vanek, Karen; Nguyen, Kim-Thoa

    2009-01-01

    In this "O-"fish"-ial" research project, third-grade students use multiple resources to research several fish species, write a research paper and develop a PowerPoint presentation to communicate their findings. In addition, students actually examine these species up close with samples from the local market, and then conclude the project with a…

  8. Citrus sinensis annotation project (CAP): a comprehensive database for sweet orange genome.

    Wang, Jia; Chen, Dijun; Lei, Yang; Chang, Ji-Wei; Hao, Bao-Hai; Xing, Feng; Li, Sen; Xu, Qiang; Deng, Xiu-Xin; Chen, Ling-Ling

    2014-01-01

    Citrus is one of the most important and widely grown fruit crop with global production ranking firstly among all the fruit crops in the world. Sweet orange accounts for more than half of the Citrus production both in fresh fruit and processed juice. We have sequenced the draft genome of a double-haploid sweet orange (C. sinensis cv. Valencia), and constructed the Citrus sinensis annotation project (CAP) to store and visualize the sequenced genomic and transcriptome data. CAP provides GBrowse-based organization of sweet orange genomic data, which integrates ab initio gene prediction, EST, RNA-seq and RNA-paired end tag (RNA-PET) evidence-based gene annotation. Furthermore, we provide a user-friendly web interface to show the predicted protein-protein interactions (PPIs) and metabolic pathways in sweet orange. CAP provides comprehensive information beneficial to the researchers of sweet orange and other woody plants, which is freely available at http://citrus.hzau.edu.cn/.

  9. Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research.

    Jiannis Ragoussis

    2006-07-01

    Full Text Available The beginning of this millennium has seen dramatic advances in genomic research. Milestones such as the complete sequencing of the human genome and of many other species were achieved and complemented by the systematic discovery of variation at the single nucleotide (SNP and whole segment (copy number polymorphism level. Currently most genomics research efforts are concentrated on the production of whole genome functional annotations, as well as on mapping the epigenome by identifying the methylation status of CpGs, mainly in CpG islands, in different tissues. These recent advances have a major impact on the way genetic research is conducted and have accelerated the discovery of genetic factors contributing to disease. Technology was the critical driving force behind genomics projects: both the combination of Sanger sequencing with high-throughput capillary electrophoresis and the rapid advances in microarray technologies were keys to success. MALDI-TOF MS-based genome analysis represents a relative newcomer in this field. Can it establish itself as a long-term contributor to genetics research, or is it only suitable for niche areas and for laboratories with a passion for mass spectrometry? In this review, we will highlight the potential of MALDI-TOF MS-based tools for resequencing and for epigenetics research applications, as well as for classical complex genetic studies, allele quantification, and quantitative gene expression analysis. We will also identify the current limitations of this approach and attempt to place it in the context of other genome analysis technologies.

  10. Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project.

    Pemberton, Trevor J; Szpiech, Zachary A

    2018-04-05

    Genomic regions of autozygosity (ROAs) represent segments of individual genomes that are homozygous for haplotypes inherited identical-by-descent (IBD) from a common ancestor. ROAs are nonuniformly distributed across the genome, and increased ROA levels are a reported risk factor for numerous complex diseases. Previously, we hypothesized that long ROAs are enriched for deleterious homozygotes as a result of young haplotypes with recent deleterious mutations-relatively untouched by purifying selection-being paired IBD as a consequence of recent parental relatedness, a pattern supported by ROA and whole-exome sequence data on 27 individuals. Here, we significantly bolster support for our hypothesis and expand upon our original analyses using ROA and whole-genome sequence data on 2,436 individuals from The 1000 Genomes Project. Considering CADD deleteriousness scores, we reaffirm our previous observation that long ROAs are enriched for damaging homozygotes worldwide. We show that strongly damaging homozygotes experience greater enrichment than weaker damaging homozygotes, while overall enrichment varies appreciably among populations. Mendelian disease genes and those encoding FDA-approved drug targets have significantly increased rates of gain in damaging homozygotes with increasing ROA coverage relative to all other genes. In genes implicated in eight complex phenotypes for which ROA levels have been identified as a risk factor, rates of gain in damaging homozygotes vary across phenotypes and populations but frequently differ significantly from non-disease genes. These findings highlight the potential confounding effects of population background in the assessment of associations between ROA levels and complex disease risk, which might underlie reported inconsistencies in ROA-phenotype associations. Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  11. Gene disruptions using P transposable elements: an integral component of the Drosophila genome project.

    Spradling, A C; Stern, D M; Kiss, I; Roote, J; Laverty, T; Rubin, G M

    1995-01-01

    Biologists require genetic as well as molecular tools to decipher genomic information and ultimately to understand gene function. The Berkeley Drosophila Genome Project is addressing these needs with a massive gene disruption project that uses individual, genetically engineered P transposable elements to target open reading frames throughout the Drosophila genome. DNA flanking the insertions is sequenced, thereby placing an extensive series of genetic markers on the physical genomic map and a...

  12. Crowdfunding the Azolla fern genome project: a grassroots approach.

    Li, Fay-Wei; Pryer, Kathleen M

    2014-01-01

    Much of science progresses within the tight boundaries of what is often seen as a "black box". Though familiar to funding agencies, researchers and the academic journals they publish in, it is an entity that outsiders rarely get to peek into. Crowdfunding is a novel means that allows the public to participate in, as well as to support and witness advancements in science. Here we describe our recent crowdfunding efforts to sequence the Azolla genome, a little fern with massive green potential. Crowdfunding is a worthy platform not only for obtaining seed money for exploratory research, but also for engaging directly with the general public as a rewarding form of outreach.

  13. Projective techniques in consumer research

    privaat

    Various projective techniques for personality assess- ment and psychoanalytic treatment in clinical psychol- .... Some social conventions or barriers may constrain the expression of feelings and reporting of behav- .... ject-stipulated characteristic. Brand mapping may be used in new product development and as a way to.

  14. Research Project Evaluation-Learnings from the PATHWAYS Project Experience.

    Galas, Aleksander; Pilat, Aleksandra; Leonardi, Matilde; Tobiasz-Adamczyk, Beata

    2018-05-25

    Every research project faces challenges regarding how to achieve its goals in a timely and effective manner. The purpose of this paper is to present a project evaluation methodology gathered during the implementation of the Participation to Healthy Workplaces and Inclusive Strategies in the Work Sector (the EU PATHWAYS Project). The PATHWAYS project involved multiple countries and multi-cultural aspects of re/integrating chronically ill patients into labor markets in different countries. This paper describes key project's evaluation issues including: (1) purposes, (2) advisability, (3) tools, (4) implementation, and (5) possible benefits and presents the advantages of a continuous monitoring. Project evaluation tool to assess structure and resources, process, management and communication, achievements, and outcomes. The project used a mixed evaluation approach and included Strengths (S), Weaknesses (W), Opportunities (O), and Threats (SWOT) analysis. A methodology for longitudinal EU projects' evaluation is described. The evaluation process allowed to highlight strengths and weaknesses and highlighted good coordination and communication between project partners as well as some key issues such as: the need for a shared glossary covering areas investigated by the project, problematic issues related to the involvement of stakeholders from outside the project, and issues with timing. Numerical SWOT analysis showed improvement in project performance over time. The proportion of participating project partners in the evaluation varied from 100% to 83.3%. There is a need for the implementation of a structured evaluation process in multidisciplinary projects involving different stakeholders in diverse socio-environmental and political conditions. Based on the PATHWAYS experience, a clear monitoring methodology is suggested as essential in every multidisciplinary research projects.

  15. Research for genetic instability of human genome

    Hori, T.; Takahashi, E.; Tsuji, H.; Yamauchi, M. (National Inst. of Radiological Sciences, Chiba (Japan)); Murata, M.

    1992-01-01

    In the present review paper, the potential relevance of chromosomal fragile sites to carcinogenesis and mutagenesis is discussed based on our own and other's studies. Recent evidence indicate that fragile sites may act as predisposition factors involved in chromosomal instability of the human genome and that the sites may be preferential targets for various DNA damaging agents including ionizing radiation. It is also demonstrated that some critical genomic rearrangements at the fragile sites may contribute towards oncogenesis and that individuals carrying heritable form of fragile site may be at the risk. Although clinical significance of autosomal fragile sites has been a matter of discussion, a fragile site of the X chromosome is known to be associated with an X-linked genetic diseases, called fragile X syndrome. Molecular events leading to the fragile X syndrome have recently been elucidated. The fragile X genotype can be characterized by an increased amount of p(CCG)n repeat DNA sequence in the FMR-1 gene and the repeated sequences are shown to be unstable in both meiosis and mitosis. These repeats might exhibit higher mutation rate than is generally seen in the human genome. Further studies on the fragile sites in molecular biology and radiation biology will yield relevant data to the molecular mechanisms of genetic instability of the human genome as well as to better assessment of genetic effect of ionizing radiation. (author).

  16. Research for genetic instability of human genome

    Hori, T.; Takahashi, E.; Tsuji, H.; Yamauchi, M.; Murata, M.

    1992-01-01

    In the present review paper, the potential relevance of chromosomal fragile sites to carcinogenesis and mutagenesis is discussed based on our own and other's studies. Recent evidence indicate that fragile sites may act as predisposition factors involved in chromosomal instability of the human genome and that the sites may be preferential targets for various DNA damaging agents including ionizing radiation. It is also demonstrated that some critical genomic rearrangements at the fragile sites may contribute towards oncogenesis and that individuals carrying heritable form of fragile site may be at the risk. Although clinical significance of autosomal fragile sites has been a matter of discussion, a fragile site of the X chromosome is known to be associated with an X-linked genetic diseases, called fragile X syndrome. Molecular events leading to the fragile X syndrome have recently been elucidated. The fragile X genotype can be characterized by an increased amount of p(CCG)n repeat DNA sequence in the FMR-1 gene and the repeated sequences are shown to be unstable in both meiosis and mitosis. These repeats might exhibit higher mutation rate than is generally seen in the human genome. Further studies on the fragile sites in molecular biology and radiation biology will yield relevant data to the molecular mechanisms of genetic instability of the human genome as well as to better assessment of genetic effect of ionizing radiation. (author)

  17. Dredging Research, Volume 3, No. 3. DNA Technology to Impact Dredged Material Projects through Faster, More Accurate Testing Methods

    McDonald, Allison

    2000-01-01

    .... Most people associate DNA with criminal cases and paternity testing, but thanks to research projects such as the Human Genome Project, which has isolated and identified thousands of genes, many...

  18. Overview of research in the ADVANTAGE project

    Angjelichinoski, Marko; Cosovic, Mirsad; Kalalas, Charalampos

    2016-01-01

    The European Marie Curie Project ADVANTAGE (Advanced Communications and Information processing in smart grid systems) was launched in 2014. It represents a major inter-disciplinary research project into the topic of Smart Grid technology. A key aspect of the project is to bring together and train...

  19. Advanced Energy Projects: FY 1993, Research summaries

    1993-09-01

    AEP has been supporting research on novel materials for energy technology, renewable and biodegradable materials, new uses for scientific discoveries, alternate pathways to energy efficiency, alternative energy sources, innovative approaches to waste treatment and reduction, etc. The summaries are grouped according to projects active in FY 1993, Phase I SBIR projects, and Phase II SBIR projects. Investigator and institutional indexes are included

  20. Advanced Energy Projects: FY 1993, Research summaries

    1993-09-01

    AEP has been supporting research on novel materials for energy technology, renewable and biodegradable materials, new uses for scientific discoveries, alternate pathways to energy efficiency, alternative energy sources, innovative approaches to waste treatment and reduction, etc. The summaries are grouped according to projects active in FY 1993, Phase I SBIR projects, and Phase II SBIR projects. Investigator and institutional indexes are included.

  1. Basic Project Management Methodologies for Survey Researchers.

    Beach, Robert H.

    To be effective, project management requires a heavy dependence on the document, list, and computational capability of a computerized environment. Now that microcomputers are readily available, only the rediscovery of classic project management methodology is required for improved resource allocation in small research projects. This paper provides…

  2. Geothermal Reservoir Technology Research Program: Abstracts of selected research projects

    Reed, M.J. (ed.)

    1993-03-01

    Research projects are described in the following areas: geothermal exploration, mapping reservoir properties and reservoir monitoring, and well testing, simulation, and predicting reservoir performance. The objectives, technical approach, and project status of each project are presented. The background, research results, and future plans for each project are discussed. The names, addresses, and telephone and telefax numbers are given for the DOE program manager and the principal investigators. (MHR)

  3. Field of genes: the politics of science and identity in the Estonian Genome Project.

    Fletcher, Amy L

    2004-04-01

    This case study of the Estonian Genome Project (EGP) analyses the Estonian policy decision to construct a national human gene bank. Drawing upon qualitative data from newspaper articles and public policy documents, it focuses on how proponents use discourse to link the EGP to the broader political goal of securing Estonia's position within the Western/European scientific and cultural space. This dominant narrative is then situated within the analytical notion of the "brand state", which raises potentially negative political consequences for this type of market-driven genomic research. Considered against the increasing number of countries engaging in gene bank and/or gene database projects, this analysis of Estonia elucidates issues that cross national boundaries, while also illuminating factors specific to this small, post-Soviet state as it enters the global biocybernetic economy.

  4. Solar Market Research and Analysis Projects | Solar Research | NREL

    Market Research and Analysis Projects Solar Market Research and Analysis Projects Solar market research and analysis efforts at NREL seek to further solar technologies' role in supporting a more . Midscale Commercial Market Solar Analysis NREL experts are providing analysis to expand the midscale solar

  5. Modeling Research Project Risks with Fuzzy Maps

    Bodea, Constanta Nicoleta; Dascalu, Mariana Iuliana

    2009-01-01

    The authors propose a risks evaluation model for research projects. The model is based on fuzzy inference. The knowledge base for fuzzy process is built with a causal and cognitive map of risks. The map was especially developed for research projects, taken into account their typical lifecycle. The model was applied to an e-testing research…

  6. Advanced energy projects FY 1992 research summaries

    1992-09-01

    The Division of Advanced Energy Projects (AEP) provides support to explore the feasibility of novel, energy-related concepts that evolve from advances in basic research. These concepts are typically at an early stage of scientific definition and, therefore, are beyond the scope of ongoing applied research or technology development programs. The Division provides a mechanism for converting basic research findings to applications that eventually could impact the Nation's energy economy. Technical topics include physical, chemical, materials, engineering, and biotechnologies. Projects can involve interdisciplinary approaches to solve energy-related problems. Projects are supported for a finite period of time, which is typically three years. Annual funding levels for projects are usually about $300,000 but can vary from approximately $50,000 to $500,000. It is expected that, following AEP support, each concept will be sufficiently developed and promising to attract further funding from other sources in order to realize its full potential. There were 39 research projects in the Division of Advanced Energy Projects during Fiscal Year 1992 (October 1, 1991 -- September 30, 1992). The abstracts of those projects are provided to introduce the overall program in Advanced Energy Projects. Further information on a specific project may be obtained by contacting the principal investigator, who is listed below the project title. Projects completed during FY 1992 are indicated

  7. Research Project Evaluation—Learnings from the PATHWAYS Project Experience

    Aleksander Galas

    2018-05-01

    Full Text Available Background: Every research project faces challenges regarding how to achieve its goals in a timely and effective manner. The purpose of this paper is to present a project evaluation methodology gathered during the implementation of the Participation to Healthy Workplaces and Inclusive Strategies in the Work Sector (the EU PATHWAYS Project. The PATHWAYS project involved multiple countries and multi-cultural aspects of re/integrating chronically ill patients into labor markets in different countries. This paper describes key project’s evaluation issues including: (1 purposes, (2 advisability, (3 tools, (4 implementation, and (5 possible benefits and presents the advantages of a continuous monitoring. Methods: Project evaluation tool to assess structure and resources, process, management and communication, achievements, and outcomes. The project used a mixed evaluation approach and included Strengths (S, Weaknesses (W, Opportunities (O, and Threats (SWOT analysis. Results: A methodology for longitudinal EU projects’ evaluation is described. The evaluation process allowed to highlight strengths and weaknesses and highlighted good coordination and communication between project partners as well as some key issues such as: the need for a shared glossary covering areas investigated by the project, problematic issues related to the involvement of stakeholders from outside the project, and issues with timing. Numerical SWOT analysis showed improvement in project performance over time. The proportion of participating project partners in the evaluation varied from 100% to 83.3%. Conclusions: There is a need for the implementation of a structured evaluation process in multidisciplinary projects involving different stakeholders in diverse socio-environmental and political conditions. Based on the PATHWAYS experience, a clear monitoring methodology is suggested as essential in every multidisciplinary research projects.

  8. Ethical issues and best practice in clinically based genomic research: Exeter Stakeholders Meeting Report.

    Carrieri, D; Bewshea, C; Walker, G; Ahmad, T; Bowen, W; Hall, A; Kelly, S

    2016-09-27

    Current guidelines on consenting individuals to participate in genomic research are diverse. This creates problems for participants and also for researchers, particularly for clinicians who provide both clinical care and research to their patients. A group of 14 stakeholders met on 7 October 2015 in Exeter to discuss the ethical issues and the best practice arising in clinically based genomic research, with particular emphasis on the issue of returning results to study participants/patients in light of research findings affecting research and clinical practices. The group was deliberately multidisciplinary to ensure that a diversity of views was represented. This report outlines the main ethical issues, areas of best practice and principles underlying ethical clinically based genomic research discussed during the meeting. The main point emerging from the discussion is that ethical principles, rather than being formulaic, should guide researchers/clinicians to identify who the main stakeholders are to consult with for a specific project and to incorporate their voices/views strategically throughout the lifecycle of each project. We believe that the mix of principles and practical guidelines outlined in this report can contribute to current debates on how to conduct ethical clinically based genomic research. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  9. Using a Historical Lens to Envision the Next Generation of Genomic Translation Research.

    McBride, Colleen M; Abrams, Leah R; Koehly, Laura M

    2015-01-01

    The past 20 years have witnessed successive and exponential advances in genomic discovery and technology, with a broad scientific imperative pushing for continual advancements. The most consistent critique of these advances is that they have vastly outpaced translation of new knowledge into improvements in public health and medicine. We employ a historical and epistemological analysis to characterize how prevailing scientific meta-narratives have shaped the pace and priorities of research applying genomics to health promotion. We use four 'pivotal events' - the genetic characterization of Down syndrome, the launch of the Human Genome Research Project, the discovery of BRCA1, and the emergence of direct-to- consumer genetic testing - to illustrate how these scientific meta-narratives have inhibited genomic translation research. The notion that discovery should precede translation research has over-focused translation research on the latest genetic testing platform. The idea that genetic-related research has an exceptional potential for public harm has encouraged research on worst case scenarios. The perceived competition between genetics and social determinants of health has discouraged a unified research agenda to move genomic translation forward. We make a case for creating new scientific meta-narratives in which discovery and translation research agendas are envisioned as an interdependent enterprise. © 2015 S. Karger AG, Basel.

  10. Genomic Research Data Generation, Analysis and Sharing – Challenges in the African Setting

    Nicola Mulder

    2017-11-01

    Full Text Available Genomics is the study of the genetic material that constitutes the genomes of organisms. This genetic material can be sequenced and it provides a powerful tool for the study of human, plant and animal evolutionary history and diseases. Genomics research is becoming increasingly commonplace due to significant advances in and reducing costs of technologies such as sequencing. This has led to new challenges including increasing cost and complexity of data. There is, therefore, an increasing need for computing infrastructure and skills to manage, store, analyze and interpret the data. In addition, there is a significant cost associated with recruitment of participants and collection and processing of biological samples, particularly for large human genetics studies on specific diseases. As a result, researchers are often reluctant to share the data due to the effort and associated cost. In Africa, where researchers are most commonly at the study recruitment, determination of phenotypes and collection of biological samples end of the genomic research spectrum, rather than the generation of genomic data, data sharing without adequate safeguards for the interests of the primary data generators is a concern. There are substantial ethical considerations in the sharing of human genomics data. The broad consent for data sharing preferred by genomics researchers and funders does not necessarily align with the expectations of researchers, research participants, legal authorities and bioethicists. In Africa, this is complicated by concerns about comprehension of genomics research studies, quality of research ethics reviews and understanding of the implications of broad consent, secondary analyses of shared data, return of results and incidental findings. Additional challenges with genomics research in Africa include the inability to transfer, store, process and analyze large-scale genomics data on the continent, because this requires highly specialized skills

  11. Genomes to life project quarterly report June 2004.

    Heffelfinger, Grant S.

    2005-01-01

    This SAND report provides the technical progress through June 2004 of the Sandia-led project, ''Carbon Sequestration in Synechococcus Sp.: From Molecular Machines to Hierarchical Modeling'', funded by the DOE Office of Science Genomes to Life Program. Understanding, predicting, and perhaps manipulating carbon fixation in the oceans has long been a major focus of biological oceanography and has more recently been of interest to a broader audience of scientists and policy makers. It is clear that the oceanic sinks and sources of CO{sub 2} are important terms in the global environmental response to anthropogenic atmospheric inputs of CO{sub 2} and that oceanic microorganisms play a key role in this response. However, the relationship between this global phenomenon and the biochemical mechanisms of carbon fixation in these microorganisms is poorly understood. In this project, we will investigate the carbon sequestration behavior of Synechococcus Sp., an abundant marine cyanobacteria known to be important to environmental responses to carbon dioxide levels, through experimental and computational methods. This project is a combined experimental and computational effort with emphasis on developing and applying new computational tools and methods. Our experimental effort will provide the biology and data to drive the computational efforts and include significant investment in developing new experimental methods for uncovering protein partners, characterizing protein complexes, identifying new binding domains. We will also develop and apply new data measurement and statistical methods for analyzing microarray experiments. Computational tools will be essential to our efforts to discover and characterize the function of the molecular machines of Synechococcus. To this end, molecular simulation methods will be coupled with knowledge discovery from diverse biological data sets for high-throughput discovery and characterization of protein-protein complexes

  12. A Strategic Analysis of Investment Opportunities within British Columbia's Private Healthcare Sector for a Non-Profit Genomics Research Organization

    Barclay, John W.

    2010-01-01

    Advances in the genome sciences are leading to the development of new healthcare innovations relevant to the principles of personalized medicine. Genome BC, a non-profit research organization, invests in projects that will help facilitate the integration of these innovations into the delivery of healthcare. This analysis assesses the strategic positioning of private healthcare firms in BC to be early users of such innovations. The analysis assesses the suitability of investment from Genome BC...

  13. The GenABEL Project for statistical genomics.

    Karssen, Lennart C; van Duijn, Cornelia M; Aulchenko, Yurii S

    2016-01-01

    Development of free/libre open source software is usually done by a community of people with an interest in the tool. For scientific software, however, this is less often the case. Most scientific software is written by only a few authors, often a student working on a thesis. Once the paper describing the tool has been published, the tool is no longer developed further and is left to its own device. Here we describe the broad, multidisciplinary community we formed around a set of tools for statistical genomics. The GenABEL project for statistical omics actively promotes open interdisciplinary development of statistical methodology and its implementation in efficient and user-friendly software under an open source licence. The software tools developed withing the project collectively make up the GenABEL suite, which currently consists of eleven tools. The open framework of the project actively encourages involvement of the community in all stages, from formulation of methodological ideas to application of software to specific data sets. A web forum is used to channel user questions and discussions, further promoting the use of the GenABEL suite. Developer discussions take place on a dedicated mailing list, and development is further supported by robust development practices including use of public version control, code review and continuous integration. Use of this open science model attracts contributions from users and developers outside the "core team", facilitating agile statistical omics methodology development and fast dissemination.

  14. The human genome project and the Catholic Church (1)

    Moraczewski, Albert S

    1991-12-01

    The Cathlic Church has not made any formal statements about the Human Genome Project as such. But the present Pope, John Paul II, has commented, albeit very briefly, on various aspects of genetic manipulation. Genetic interventions which are therapeutic (e.g. gene therapy), namely, directed to the correction or amelioration of a disorder are acceptable, in principle, provided they promote the personal well being of the individual being so treated. Genetic interventions which are not therapeutic for the specific individual involved but are experimental and directed primarily to improving humans as biological entities are of dubious moral probity, but are not necessarily to be totally rejected out of hand. To be morally acceptable such genetic intervention should meet certain conditions which include due respect for the given psychological nature of each individual human being. In addition, no harm should be inflicted on the process of human generation, and its fundamental design should not be altered. Any genetic manipulation which results in, or tends to, the creation of groups with different qualities such that there would result a fresh marginalization of these people must be avoided. It has been also suggested by a few that because the Son of God took on a human nature in Jesus Christ, one may not so alter the human genome that a new distinct species would be created....

  15. The impact of the human genome project on risk assessment

    Katarzyna Doerffer; Paul Unrau.

    1996-01-01

    The radiation protection approach to risk assessment assumes that cancer induction following radiation exposure is purely random. Present risk assessment methods derive risk from cancer incidence frequencies in exposed populations and associate disease outcomes totally with the level of exposure to ionizing red aeon. Exposure defines a risk factor that affects the probability of the disease outcome. But cancer risk can be affected by other risk factors such as underlying genetic factors (predisposition) of the exposed organism. These genetic risk factors are now becoming available for incorporation into ionizing radiation risk assessment Progress in the Human Genome Project (HOP) will lead to direct assays to measure the effects of genetic risk determinants in disease outcomes. When all genetic risk determinants are known and incorporated into risk assessment it will be possible to reevaluate the role of ionizing radiation in the causation of cancer. (author)

  16. Genomes to Life Project Quartely Report October 2004.

    Heffelfinger, Grant S.; Martino, Anthony; Rintoul, Mark Daniel; Geist, Al; Gorin, Andrey; Xu, Ying; Palenik, Brian

    2005-02-01

    This SAND report provides the technical progress through October 2004 of the Sandia-led project, %22Carbon Sequestration in Synechococcus Sp.: From Molecular Machines to Hierarchical Modeling,%22 funded by the DOE Office of Science Genomes to Life Program. Understanding, predicting, and perhaps manipulating carbon fixation in the oceans has long been a major focus of biological oceanography and has more recently been of interest to a broader audience of scientists and policy makers. It is clear that the oceanic sinks and sources of CO2 are important terms in the global environmental response to anthropogenic atmospheric inputs of CO2 and that oceanic microorganisms play a key role in this response. However, the relationship between this global phenomenon and the biochemical mechanisms of carbon fixation in these microorganisms is poorly understood. In this project, we will investigate the carbon sequestration behavior of Synechococcus Sp., an abundant marine cyanobacteria known to be important to environmental responses to carbon dioxide levels, through experimental and computational methods. This project is a combined experimental and computational effort with emphasis on developing and applying new computational tools and methods. Our experimental effort will provide the biology and data to drive the computational efforts and include significant investment in developing new experimental methods for uncovering protein partners, characterizing protein complexes, identifying new binding domains. We will also develop and apply new data measurement and statistical methods for analyzing microarray experiments. Computational tools will be essential to our efforts to discover and characterize the function of the molecular machines of Synechococcus. To this end, molecular simulation methods will be coupled with knowledge discovery from diverse biological data sets for high-throughput discovery and characterization of protein-protein complexes. In addition, we will develop

  17. Toxicology research projects directory, 1978. Monthly repts

    1978-01-01

    The Toxicology Research Projects Directory is a monthly publication of ongoing research projects in toxicology and related fields selected from the files of the Smithsonian Science Information Exchange (SSIE). Each issue lists toxicology-related research projects reported to SSIE during the one-month period preceding that issue. Each of the summaries is categorized by scientific discipline and assigned a unique identification number for cross-referencing from the Directory Indexes--Subject, Investigator, Performing Organization, Supporting Agency, and Master Grant Number. The thirteenth issue consists of Cumulative Indexes for the entire volume with referencing to projects in all of the previous twelve issues. The emphasis of the Directory is on the manifestations of the exposure of man and animals to toxic substances. Projects are classified by toxic agents, research orientation, and areas of environmental concern

  18. Brassica ASTRA: an integrated database for Brassica genomic research.

    Love, Christopher G; Robinson, Andrew J; Lim, Geraldine A C; Hopkins, Clare J; Batley, Jacqueline; Barker, Gary; Spangenberg, German C; Edwards, David

    2005-01-01

    Brassica ASTRA is a public database for genomic information on Brassica species. The database incorporates expressed sequences with Swiss-Prot and GenBank comparative sequence annotation as well as secondary Gene Ontology (GO) annotation derived from the comparison with Arabidopsis TAIR GO annotations. Simple sequence repeat molecular markers are identified within resident sequences and mapped onto the closely related Arabidopsis genome sequence. Bacterial artificial chromosome (BAC) end sequences derived from the Multinational Brassica Genome Project are also mapped onto the Arabidopsis genome sequence enabling users to identify candidate Brassica BACs corresponding to syntenic regions of Arabidopsis. This information is maintained in a MySQL database with a web interface providing the primary means of interrogation. The database is accessible at http://hornbill.cspp.latrobe.edu.au.

  19. Summaries of fiscal year 1994 projects in medical applications and biophysical research

    1995-04-01

    This report provides information on the research supported in Fiscal Year 1994 by the Medical Applications and Biophysical Research Division of the Office of Health and Environmental Research. A brief statement of the scope of the following areas is presented: dosimetry; measurement science; radiological and chemical physics; structural biology; human genome; and medical applications. Summaries of the research projects in these categories are presented

  20. Understanding our genetic inheritance: The US Human Genome Project, The first five years FY 1991--1995

    None

    1990-04-01

    The Human Genome Initiative is a worldwide research effort with the goal of analyzing the structure of human DNA and determining the location of the estimated 100,000 human genes. In parallel with this effort, the DNA of a set of model organisms will be studied to provide the comparative information necessary for understanding the functioning of the human genome. The information generated by the human genome project is expected to be the source book for biomedical science in the 21st century and will by of immense benefit to the field of medicine. It will help us to understand and eventually treat many of the more than 4000 genetic diseases that affect mankind, as well as the many multifactorial diseases in which genetic predisposition plays an important role. A centrally coordinated project focused on specific objectives is believed to be the most efficient and least expensive way of obtaining this information. The basic data produced will be collected in electronic databases that will make the information readily accessible on convenient form to all who need it. This report describes the plans for the U.S. human genome project and updates those originally prepared by the Office of Technology Assessment (OTA) and the National Research Council (NRC) in 1988. In the intervening two years, improvements in technology for almost every aspect of genomics research have taken place. As a result, more specific goals can now be set for the project.

  1. Human genome program report. Part 2, 1996 research abstracts

    NONE

    1997-11-01

    This report contains Part 2 of a two-part report to reflect research and progress in the US Department of Energy Human Genome Program from 1994 through 1996, with specified updates made just before publication. Part 2 consists of 1996 research abstracts. Attention is focused on the following: sequencing; mapping; informatics; ethical, legal, and social issues; infrastructure; and small business innovation research.

  2. Research projects of STUK 2000-2002

    Salomaa, S.

    2000-06-01

    The primary goal of STUK, the Finnish Radiation and Nuclear Safety Authority, is to prevent and limit the harmful effects of radiation. The research conducted by STUK yields new information related to the use, occurrence and effects of radiation. STUK research projects 2000 - 2002 summarises STUK's own research activities on radiation protection. In addition to these, STUK also supervises and funds research projects related to safety of nuclear energy and nuclear waste and materials that are carried out in other research institutes. Information on the research projects and related publications is also available on STUK's WWW pages at www.stuk.fi. STUK's research focuses on radiation protection and the health effects of radiation. During 2000 - 2002, the main emphasis will be on projects supporting the Finnish national environmental health action plan, the health risks of radiation, emergency preparedness and cooperation with neighbouring CEE areas. EU directives on radiation protection and medical exposure to radiation also influence the course taken by research carried out at STUK. New research priorities also include studies on non-ionising radiation, especially the effects of mobile phone frequency radiation. STUK's research activities are now more international than ever; the institute is involved in about 20 research projects funded by EC. Apart from the European Union and the Nordic countries, STUK's main partners are to be found in Russia, Estonia and the USA. (author)

  3. Research projects of STUK 2000-2002

    Salomaa, S. [ed.

    2000-06-01

    The primary goal of STUK, the Finnish Radiation and Nuclear Safety Authority, is to prevent and limit the harmful effects of radiation. The research conducted by STUK yields new information related to the use, occurrence and effects of radiation. STUK research projects 2000 - 2002 summarises STUK's own research activities on radiation protection. In addition to these, STUK also supervises and funds research projects related to safety of nuclear energy and nuclear waste and materials that are carried out in other research institutes. Information on the research projects and related publications is also available on STUK's WWW pages at www.stuk.fi. STUK's research focuses on radiation protection and the health effects of radiation. During 2000 - 2002, the main emphasis will be on projects supporting the Finnish national environmental health action plan, the health risks of radiation, emergency preparedness and cooperation with neighbouring CEE areas. EU directives on radiation protection and medical exposure to radiation also influence the course taken by research carried out at STUK. New research priorities also include studies on non-ionising radiation, especially the effects of mobile phone frequency radiation. STUK's research activities are now more international than ever; the institute is involved in about 20 research projects funded by EC. Apart from the European Union and the Nordic countries, STUK's main partners are to be found in Russia, Estonia and the USA. (author)

  4. Art meets science: The Cosmopolitan Chicken Research Project.

    Stinckens, A; Vereijken, A; Ons, E; Konings, P; Van As, P; Cuppens, H; Moreau, Y; Sakai, R; Aerts, J; Goddeeris, B; Buys, N; Vanmechelen, K; Cassiman, J J

    2015-01-01

    The Cosmopolitan Chicken Project is an artistic undertaking of renowned artist Koen Vanmechelen. In this project, the artist interbreeds domestic chickens from different countries aiming at the creation of a true Cosmopolitan Chicken as a symbol for global diversity. The unifying theme is the chicken and the egg, symbols that link scientific, political, philosophical and ethical issues. The Cosmopolitan Chicken Research Project is the scientific component of this artwork. Based on state of the art genomic techniques, the project studies the effect of the crossing of chickens on the genetic diversity. Also, this research is potentially applicable to the human population. The setup of the CC®P is quite different from traditional breeding experiments: starting from the crossbreed of two purebred chickens (Mechelse Koekoek x Poule de Bresse), every generation is crossed with a few animals from another breed. For 26 of these purebred and crossbred populations, genetic diversity was measured (1) under the assumption that populations were sufficiently large to maintain all informative SNP within a generation and (2) under the circumstances of the CCP breeding experiment. Under the first assumption, a steady increase in genetic diversity was witnessed over the consecutive generations, thus indeed indicating the creation of a "Cosmopolitan Chicken Genome". However, under the conditions of the CCP, which reflects the reality within the human population, diversity is seen to fluctuate within given boundaries instead of steadily increasing. A reflection on this might be that this is because, in humans, an evolutionary optimum in genetic diversity is reached. Key words.

  5. Human Genome Teacher Networking Project, Final Report, April 1, 1992 - March 31, 1998

    Collins, Debra

    1999-10-01

    Project to provide education regarding ethical legal and social implications of Human Genome Project to high school science teachers through two consecutive summer workshops, in class activities, and peer teaching workshops.

  6. Advanced energy projects FY 1997 research summaries

    NONE

    1997-09-01

    The mission of the Advanced Energy Projects (AEP) program is to explore the scientific feasibility of novel energy-related concepts that are high risk, in terms of scientific feasibility, yet have a realistic potential for a high technological payoff. The concepts supported by the AEP are typically at an early stage of scientific development. They often arise from advances in basic research and are premature for consideration by applied research or technology development programs. Some are based on discoveries of new scientific phenomena or involve exploratory ideas that span multiple scientific and technical disciplines which do not fit into an existing DOE program area. In all cases, the objective is to support evaluation of the scientific or technical feasibility of the novel concepts involved. Following AEP support, it is expected that each concept will be sufficiently developed to attract further funding from other sources to realize its full potential. Projects that involve evolutionary research or technology development and demonstration are not supported by AEP. Furthermore, research projects more appropriate for another existing DOE research program are not encouraged. There were 65 projects in the AEP research portfolio during Fiscal Year 1997. Eigheen projects were initiated during that fiscal year. This document consists of short summaries of projects active in FY 1997. Further information of a specific project may be obtained by contacting the principal investigator.

  7. Internationalization Measures in Large Scale Research Projects

    Soeding, Emanuel; Smith, Nancy

    2017-04-01

    Internationalization measures in Large Scale Research Projects Large scale research projects (LSRP) often serve as flagships used by universities or research institutions to demonstrate their performance and capability to stakeholders and other interested parties. As the global competition among universities for the recruitment of the brightest brains has increased, effective internationalization measures have become hot topics for universities and LSRP alike. Nevertheless, most projects and universities are challenged with little experience on how to conduct these measures and make internationalization an cost efficient and useful activity. Furthermore, those undertakings permanently have to be justified with the Project PIs as important, valuable tools to improve the capacity of the project and the research location. There are a variety of measures, suited to support universities in international recruitment. These include e.g. institutional partnerships, research marketing, a welcome culture, support for science mobility and an effective alumni strategy. These activities, although often conducted by different university entities, are interlocked and can be very powerful measures if interfaced in an effective way. On this poster we display a number of internationalization measures for various target groups, identify interfaces between project management, university administration, researchers and international partners to work together, exchange information and improve processes in order to be able to recruit, support and keep the brightest heads to your project.

  8. The Genomics Education Partnership: Successful Integration of Research into Laboratory Classes at a Diverse Group of Undergraduate Institutions

    Shaffer, Christopher D.; Alvarez, Consuelo; Bailey, Cheryl; Barnard, Daron; Bhalla, Satish; Chandrasekaran, Chitra; Chandrasekaran, Vidya; Chung, Hui-Min; Dorer, Douglas R.; Du, Chunguang; Eckdahl, Todd T.; Poet, Jeff L.; Frohlich, Donald; Goodman, Anya L.; Gosser, Yuying; Hauser, Charles; Hoopes, Laura L.M.; Johnson, Diana; Jones, Christopher J.; Kaehler, Marian; Kokan, Nighat; Kopp, Olga R.; Kuleck, Gary A.; McNeil, Gerard; Moss, Robert; Myka, Jennifer L.; Nagengast, Alexis; Morris, Robert; Overvoorde, Paul J.; Shoop, Elizabeth; Parrish, Susan; Reed, Kelynne; Regisford, E. Gloria; Revie, Dennis; Rosenwald, Anne G.; Saville, Ken; Schroeder, Stephanie; Shaw, Mary; Skuse, Gary; Smith, Christopher; Smith, Mary; Spana, Eric P.; Spratt, Mary; Stamm, Joyce; Thompson, Jeff S.; Wawersik, Matthew; Wilson, Barbara A.; Youngblom, Jim; Leung, Wilson; Buhler, Jeremy; Mardis, Elaine R.; Lopatto, David

    2010-01-01

    Genomics is not only essential for students to understand biology but also provides unprecedented opportunities for undergraduate research. The goal of the Genomics Education Partnership (GEP), a collaboration between a growing number of colleges and universities around the country and the Department of Biology and Genome Center of Washington University in St. Louis, is to provide such research opportunities. Using a versatile curriculum that has been adapted to many different class settings, GEP undergraduates undertake projects to bring draft-quality genomic sequence up to high quality and/or participate in the annotation of these sequences. GEP undergraduates have improved more than 2 million bases of draft genomic sequence from several species of Drosophila and have produced hundreds of gene models using evidence-based manual annotation. Students appreciate their ability to make a contribution to ongoing research, and report increased independence and a more active learning approach after participation in GEP projects. They show knowledge gains on pre- and postcourse quizzes about genes and genomes and in bioinformatic analysis. Participating faculty also report professional gains, increased access to genomics-related technology, and an overall positive experience. We have found that using a genomics research project as the core of a laboratory course is rewarding for both faculty and students. PMID:20194808

  9. The lawful uses of knowledge from the Human Genome Project

    Grad, F.P.

    1994-04-15

    Part I of this study deals with the right to know or not to know personal genetic information, and examines available legal protections of the right of privacy and the adverse effect of the disclosure of genetic information both on employment and insurance interests and on self esteem and protection of personal integrity. The study examines the rationale for the legal protection of privacy as the protection of a public interest. It examines the very limited protections currently available for privacy interests, including genetic privacy interests, and concludes that there is a need for broader, more far-reaching legal protections. The second part of the study is based on the assumption that as major a project as the Human Genome Project, spending billions of dollars on science which is health related, will indeed be applied for preventive and therapeutic public health purposes, as it has been in the past. It also addresses the recurring fear that public health initiatives in the genetic area must evolve a new eugenic agenda, that we must not repeat the miserable discriminatory experiences of the past.

  10. Advanced energy projects: FY 1987 research summaries

    1987-09-01

    This report contains brief summaries of all projects active in the Division of Advanced Energy Projects during Fiscal Year 1987 (October 1, 1986-September 30, 1987). The intent of this compilation is to provide a convenient means for quickly acquainting an interested reader with the program in Advanced Energy Projects. More detailed information on research activities in a particular project may be obtained by contacting directly the principal investigator. Some projects will have reached the end of their contract periods by the time this book appears, and will, therefore, no longer be active. Those cases in which work was completed in FY '87 are indicated by the footnote: Project completed. The annual funding level of each project is shown

  11. Research projects of STUK 2003-2005

    Salomaa, S.

    2004-01-01

    The primary goal of STUK, Finnish Radiation and Nuclear Safety Authority, is to protect man, society, environment and future generations from the harmful effects of radiation. The research conducted by STUK yields new information related to the use, occurrence and effects of radiation. STUK research projects 2003 - 2005 summarizes STUK's own research activities on radiation protection. In addition to these, STUK also supervises and funds research projects related to safety of nuclear energy, and nuclear waste and materials that are carried out in other research institutes. Information on the research projects and related publications is also available on STUK's WWW pages at www.stuk.fi. STUK's research focuses on radiation protection and health effects of radiation. During 2003 - 2005 the main emphasis will be on research supporting the Finnish national environmental health action plan, and projects concerning the health risks of radiation, nuclear emergency preparedness and protection of biota. EU directives on radiation protection and medical radiation exposure also influence the course taken by the research carried out at STUK. New research priorities also include studies on non-ionising radiation, especially the effects of mobile phone frequency radiation. STUK's research networks involve well over 100 national and international partners. During 2003 - 2005 STUK is actively participating in the 6th framework research programmes of EC

  12. 'Ethiopia-Netherlands AIDS research project'

    Sanders, E. J.; Rinke de Wit, T. F.; Fontanet, A. L.; Goudsmit, J.; Miedema, F.; Coutinho, R. A.

    2001-01-01

    The 'Ethiopia-Netherlands AIDS Research Project' (ENARP), started in 1994, is a long-term collaboration between AIDS researchers in Amsterdam and the Ethiopian Health and Nutrition Research Institute in Addis Ababa. The ENARP's primary objectives include conducting studies on HIV and AIDS in

  13. 75 FR 8374 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-02-24

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Officer, Scientific Review Branch, National Human Genome Research Institute, National Institutes of Health...

  14. 77 FR 5035 - National Human Genome Research Institute; Notice of Closed Meetings

    2012-02-01

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research... Officer, Scientific Review Branch, National Human Genome Research Institute, National Institutes of Health...

  15. 78 FR 64222 - National Human Genome Research Institute; Notice of Closed Meetings

    2013-10-28

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research... Review, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, 301...

  16. 77 FR 20646 - National Human Genome Research Institute; Notice of Closed Meetings

    2012-04-05

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research.... Agenda: To review and evaluate grant applications. Place: National Human Genome Research Institute, 5635...

  17. 77 FR 58402 - National Human Genome Research Institute; Notice of Closed Meetings

    2012-09-20

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research...: To review and evaluate grant applications. Place: National Human Genome Research Institute, 5635...

  18. 78 FR 55752 - National Human Genome Research Institute; Notice of Closed Meetings

    2013-09-11

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research.... Pozzatti, Ph.D., Scientific Review Officer, Scientific Review Branch, National Human Genome Research...

  19. 78 FR 56905 - National Human Genome Research Institute; Notice of Closed Meeting

    2013-09-16

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research....m. Agenda: To review and evaluate grant applications. Place: National Human Genome Research...

  20. 76 FR 28056 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-05-13

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Counselors, National Human Genome Research Institute. The meeting will be closed to the public as indicated... National Human Genome Research Institute, including consideration of personnel qualifications and...

  1. 76 FR 17930 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-03-31

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Review Officer, Scientific Review Branch, National Human Genome Research Institute, 5635 Fishers Lane...

  2. 77 FR 59933 - National Human Genome Research Institute; Notice of Closed Meetings

    2012-10-01

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research....D., Scientific Review Officer, Scientific Review Branch, National Human Genome Research Institute...

  3. 78 FR 107 - National Human Genome Research Institute; Notice of Closed Meeting

    2013-01-02

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... evaluate grant applications. Place: National Human Genome Research Institute, 3rd Floor Conference Room....D., Scientific Review Officer, Scientific Review Branch, National Human Genome Research Institute...

  4. 76 FR 58023 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-09-19

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Initial..., Scientific Review Officer, Office of Scientific Review, National Human Genome Research Institute, National...

  5. 77 FR 28888 - National Human Genome Research Institute Notice of Closed Meeting

    2012-05-16

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Initial...: To review and evaluate grant applications. Place: National Human Genome Research Institute, 3635...

  6. 78 FR 70063 - National Human Genome Research Institute; Notice of Closed Meeting

    2013-11-22

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Counselors, National Human Genome Research Institute. The meeting will be closed to the public as indicated... NATIONAL HUMAN GENOME RESEARCH INSTITUTE, including consideration of personnel qualifications and...

  7. 78 FR 9707 - National Human Genome Research Institute; Notice of Closed Meetings

    2013-02-11

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research... Officer, Scientific Review Branch, National Human Genome Research Institute, 5635 Fishers Lane, Suite 4076...

  8. 77 FR 71604 - National Human Genome Research Institute; Notice of Closed Meeting

    2012-12-03

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special..., Scientific Review Branch, National Human Genome Research Institute, National Institutes of Health, 5635...

  9. 76 FR 5390 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-01-31

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Place: National Human Genome Research Institute Special Emphasis... Officer, Scientific Review Branch, National Human Genome Research Institute, 5635 Fishers Lane, Suite 4076...

  10. 75 FR 13558 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-03-22

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Counselors, National Human Genome Research Institute. The meeting will be closed to the public as indicated... National Human Genome Research Institute, including consideration of personnel qualifications and...

  11. 76 FR 29772 - National Human Genome Research Institute; Notice of Closed Meetings

    2011-05-23

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research... of Scientific Review, National Human Genome Research Institute, National Institutes of Health...

  12. About the Epidemiology and Genomics Research Program

    Epidemiology is the scientific study of the causes and distribution of disease in populations. NCI-funded epidemiology research is conducted through research at institutions in the United States and internationally.

  13. The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.

    Vassy, Jason L; Lautenbach, Denise M; McLaughlin, Heather M; Kong, Sek Won; Christensen, Kurt D; Krier, Joel; Kohane, Isaac S; Feuerman, Lindsay Z; Blumenthal-Barby, Jennifer; Roberts, J Scott; Lehmann, Lisa Soleymani; Ho, Carolyn Y; Ubel, Peter A; MacRae, Calum A; Seidman, Christine E; Murray, Michael F; McGuire, Amy L; Rehm, Heidi L; Green, Robert C

    2014-03-20

    Whole genome sequencing (WGS) is already being used in certain clinical and research settings, but its impact on patient well-being, health-care utilization, and clinical decision-making remains largely unstudied. It is also unknown how best to communicate sequencing results to physicians and patients to improve health. We describe the design of the MedSeq Project: the first randomized trials of WGS in clinical care. This pair of randomized controlled trials compares WGS to standard of care in two clinical contexts: (a) disease-specific genomic medicine in a cardiomyopathy clinic and (b) general genomic medicine in primary care. We are recruiting 8 to 12 cardiologists, 8 to 12 primary care physicians, and approximately 200 of their patients. Patient participants in both the cardiology and primary care trials are randomly assigned to receive a family history assessment with or without WGS. Our laboratory delivers a genome report to physician participants that balances the needs to enhance understandability of genomic information and to convey its complexity. We provide an educational curriculum for physician participants and offer them a hotline to genetics professionals for guidance in interpreting and managing their patients' genome reports. Using varied data sources, including surveys, semi-structured interviews, and review of clinical data, we measure the attitudes, behaviors and outcomes of physician and patient participants at multiple time points before and after the disclosure of these results. The impact of emerging sequencing technologies on patient care is unclear. We have designed a process of interpreting WGS results and delivering them to physicians in a way that anticipates how we envision genomic medicine will evolve in the near future. That is, our WGS report provides clinically relevant information while communicating the complexity and uncertainty of WGS results to physicians and, through physicians, to their patients. This project will not only

  14. Leading Edge Aeronautics Research for NASA Project

    National Aeronautics and Space Administration — The LEARN Project explores the creation of novel concepts and processes with the potential to create new capabilities in aeronautics research through awards to the...

  15. Enabling a Community to Dissect an Organism: Overview of the Neurospora Functional Genomics Project

    Dunlap, Jay C.; Borkovich, Katherine A.; Henn, Matthew R.; Turner, Gloria E.; Sachs, Matthew S.; Glass, N. Louise; McCluskey, Kevin; Plamann, Michael; Galagan, James E.; Birren, Bruce W.; Weiss, Richard L.; Townsend, Jeffrey P.; Loros, Jennifer J.; Nelson, Mary Anne; Lambreghts, Randy

    2007-01-01

    A consortium of investigators is engaged in a functional genomics project centered on the filamentous fungus Neurospora, with an eye to opening up the functional genomic analysis of all the filamentous fungi. The overall goal of the four interdependent projects in this effort is to acccomplish functional genomics, annotation, and expression analyses of Neurospora crassa, a filamentous fungus that is an established model for the assemblage of over 250,000 species of nonyeast fungi. Building fr...

  16. STUK research projects 1998-2000

    Salomaa, S.; Eloranta, E.; Heimbuerger, H.; Jokela, K.; Jaervinen, H.

    1998-07-01

    The primary goal of STUK, the Finnish Radiation and Nuclear Safety Authority, is to prevent and limit the harmful effects of radiation. The research conducted by STUK yields new information related to the use, occurrence and effects of radiation and promotes the supervision of nuclear safety. STUK research projects 1998 - 2000 summarizes STUK's own research projects and commissioned research designed to promote the supervision of nuclear safety. Information on the research projects and related publications is also available on STUK's WWW pages at www.stuk.fi. The work done on the safe use of nuclear power and nuclear waste management mainly comprises commissioned research projects which derive from the needs of authorities, and are funded and directed by STUK. This research is conducted by organizations outside STUK, but supervised by STUK experts. In some cases, STUK personnel are also involved. The goal of this research work is to produce the information needed for decision-making, to develop supervisory methods and to ensure that recent developments in science and technology are taken into account in action to promote safe use of nuclear power. STUK's own research focuses on radiation protection and the health effects of radiation. During 1998 - 2000, the main emphasis will be on projects supporting the Finnish national environmental health action plan, the health risks of radiation, emergency preparedness and cooperation with neighbouring CEE areas. EU directives on radiation protection and medical exposure to radiation also influence the course taken by research carried out at STUK. STUK's research activities are now more international than ever; the institute is involved in more then 20 research projects funded by EU. Apart from the EU and the Nordic countries, STUK's main partners are to be found in Russia, Estonia and the USA. (orig.)

  17. The Genomes On Line Database (GOLD) in 2009: status of genomic and metagenomic projects and their associated metadata

    Liolios, Konstantinos; Chen, I-Min A.; Mavromatis, Konstantinos; Tavernarakis, Nektarios; Hugenholtz, Philip; Markowitz, Victor M.; Kyrpides, Nikos C.

    2010-01-01

    The Genomes On Line Database (GOLD) is a comprehensive resource for centralized monitoring of genome and metagenome projects worldwide. Both complete and ongoing projects, along with their associated metadata, can be accessed in GOLD through precomputed tables and a search page. As of September 2009, GOLD contains information for more than 5800 sequencing projects, of which 1100 have been completed and their sequence data deposited in a public repository. GOLD continues to expand, moving toward the goal of providing the most comprehensive repository of metadata information related to the projects and their organisms/environments in accordance with the Minimum Information about a (Meta)Genome Sequence (MIGS/MIMS) specification. GOLD is available at: http://www.genomesonline.org and has a mirror site at the Institute of Molecular Biology and Biotechnology, Crete, Greece, at: http://gold.imbb.forth.gr/ PMID:19914934

  18. Bat biology, genomes, and the Bat1K project

    Teeling, Emma C; Vernes, Sonja C; Dávalos, Liliana M

    2018-01-01

    and endangered. Here we announce Bat1K, an initiative to sequence the genomes of all living bat species (n∼1,300) to chromosome-level assembly. The Bat1K genome consortium unites bat biologists (>148 members as of writing), computational scientists, conservation organizations, genome technologists, and any...

  19. Cultural differences in Research project management

    Barbier, Michele

    2016-04-01

    Scientific Projects today have increased in complexity, requiring multidisciplinarity, and requiring a mix of diverse individuals from different countries who must be integrated into an effective project. Effective team building is one of the prime responsibilities of the project manager. When the project is supported by a funding, the integration and the implication of the different partners are quite easy. Particularly when partners are developing high-performing teams. However, management of research project requires further skills when the budget is not very high and/or when partners are from non-European countries and are not using the same vocabulary. The various cultures, values, beliefs and social usages, particularly with Mediterranean countries cause a special style of communication for an individual or group of individuals. This communication style participates in the success of the project and encompasses a lot of diplomatic skills which will be highlighted.

  20. Integrated Project Delivery (IPD Research Trends.

    Kahvandi, Z.

    2017-07-01

    Full Text Available Integrated Project Delivery (IPD is introduced as a vibrant approach to enhance project implementation, having particular position in recent studies among construction researchers. This study analyzes the research trends on the field of IPD to provide an appropriate vision for future researchers in this specialized field. While so far no comprehensive research has been done in this field, this study provides a comprehensive review of existing studies through in-depth literature review method. This research evaluates studies conducted in the field of IPD, which is a basis for future researchers to improve conditions of IPD implementation in different countries. For that this study Using library studies, the trend of researches conducted on various concepts and domains during various years, has been investigated. Future studies can simply use the outputs of this research to shape their research flow on establishing continuing progress of IPD. The data obtained from descriptive analyses are illustrated quantitatively, followed by comprehensive analyses and discussion of the results. Moreover, this study concluded that during recent years, the trend of studies conducted about IPD has increased, particularly articles examined challenges. In the next step, more studies have been performed in the field of construction. Those articles are preferred that have evaluated principles, challenges, and solutions for resolving barriers. Proper IPD implementation facilitates enhanced share of information and early identification of stakeholders through a proper timing as vital keys to realize objectives of the construction projects, reduce risks, and increase the chance of project success.

  1. Consortium biology in immunology: the perspective from the Immunological Genome Project.

    Benoist, Christophe; Lanier, Lewis; Merad, Miriam; Mathis, Diane

    2012-10-01

    Although the field has a long collaborative tradition, immunology has made less use than genetics of 'consortium biology', wherein groups of investigators together tackle large integrated questions or problems. However, immunology is naturally suited to large-scale integrative and systems-level approaches, owing to the multicellular and adaptive nature of the cells it encompasses. Here, we discuss the value and drawbacks of this organization of research, in the context of the long-running 'big science' debate, and consider the opportunities that may exist for the immunology community. We position this analysis in light of our own experience, both positive and negative, as participants of the Immunological Genome Project.

  2. ELSI Bibliography: Ethical legal and social implications of the Human Genome Project

    Yesley, M.S. [comp.

    1993-11-01

    This second edition of the ELSI Bibliography provides a current and comprehensive resource for identifying publications on the major topics related to the ethical, legal and social issues (ELSI) of the Human Genome Project. Since the first edition of the ELSI Bibliography was printed last year, new publications and earlier ones identified by additional searching have doubled our computer database of ELSI publications to over 5600 entries. The second edition of the ELSI Bibliography reflects this growth of the underlying computer database. Researchers should note that an extensive collection of publications in the database is available for public use at the General Law Library of Los Alamos National Laboratory (LANL).

  3. Project management of life-science research projects: project characteristics, challenges and training needs.

    Beukers, Margot W

    2011-02-01

    Thirty-four project managers of life-science research projects were interviewed to investigate the characteristics of their projects, the challenges they faced and their training requirements. A set of ten discriminating parameters were identified based on four project categories: contract research, development, discovery and call-based projects--projects set up to address research questions defined in a call for proposals. The major challenges these project managers are faced with relate to project members, leadership without authority and a lack of commitment from the respective organization. Two-thirds of the project managers indicated that they would be interested in receiving additional training, mostly on people-oriented, soft skills. The training programs that are currently on offer, however, do not meet their needs. Copyright © 2010 Elsevier Ltd. All rights reserved.

  4. Human Genome Project discoveries: Dialectics and rhetoric in the science of genetics

    Robidoux, Charlotte A.

    The Human Genome Project (HGP), a $437 million effort that began in 1990 to chart the chemical sequence of our three billion base pairs of DNA, was completed in 2003, marking the 50th anniversary that proved the definitive structure of the molecule. This study considered how dialectical and rhetorical arguments functioned in the science, political, and public forums over a 20-year period, from 1980 to 2000, to advance human genome research and to establish the official project. I argue that Aristotle's continuum of knowledge--which ranges from the probable on one end to certified or demonstrated knowledge on the other--provides useful distinctions for analyzing scientific reasoning. While contemporary scientific research seeks to discover certified knowledge, investigators generally employ the hypothetico-deductive or scientific method, which often yields probable rather than certain findings, making these dialectical in nature. Analysis of the discourse describing human genome research revealed the use of numerous rhetorical figures and topics. Persuasive and probable reasoning were necessary for scientists to characterize unknown genetic phenomena, to secure interest in and funding for large-scale human genome research, to solve scientific problems, to issue probable findings, to convince colleagues and government officials that the findings were sound and to disseminate information to the public. Both government and private venture scientists drew on these tools of reasoning to promote their methods of mapping and sequencing the genome. The debate over how to carry out sequencing was rooted in conflicting values. Scientists representing the academic tradition valued a more conservative method that would establish high quality results, and those supporting private industry valued an unconventional approach that would yield products and profits more quickly. Values in turn influenced political and public forum arguments. Agency representatives and investors sided

  5. Annual review of research projects 1984

    Keam, D.W.

    1986-02-01

    This progress report provides a brief outline of current laboratory research and development projects and their present status. Research fields covered are: uranium, radon and its daughters, radiation effects in solids and gases, x-rays and clinical dosimetry, measurement standards in radiation dosimetry, radiopharmaceuticals and nuclear medicine, non-ionizing electromagnetic radiations, environmental radiochemistry and radiation monitoring

  6. Annual review of research projects 1983

    1985-08-01

    This progress report provides a brief outline of current laboratory research and development projects and their present status. Research fields covered are: uranium, radon and its daughters, radiation effects in solids and gases, thermoluminescence, x-rays and clinical dosimetry, measurement standards in radiation dosimetry, radiopharmaceuticals and nuclear medicine, radionuclide metrology, non-ionizing electromagnetic radiations, environmental radiochemistry and radiation monitoring

  7. Jmol-Enhanced Biochemistry Research Projects

    Saderholm, Matthew; Reynolds, Anthony

    2011-01-01

    We developed a protein research project for a one-semester biochemistry lecture class to enhance learning and more effectively train students to understand protein structure and function. During this semester-long process, students select a protein with known structure and then research its structure, sequence, and function. This project…

  8. Research oriented projects on design themese

    Tollestrup, Christian; Eriksen, Kaare; Ovesen, Nis

    2011-01-01

    How can design students do research-oriented projects about design themes? At the 3rd semester at the Industrial Design Master Program at Aalborg University this is done by taking research oriented learning objectives on design theories and methods and combining them with experimental case studie...... and professional self-reflection amongst students are improved....

  9. Cross-disciplinary, authentic student research projects

    Heck, A.; Uylings, P.; Kędzierska, E.; Ellermeijer, T.

    2010-01-01

    In the Dutch secondary education system, students must carry out at the end of their school career a rather large research or design project to demonstrate their ability to apply acquired knowledge and skills while pursuing a research question or design goal in some depth. They are encouraged to

  10. Methodology of impact assessment of research projects

    Rodriguez Cardona, R.; Cobas Aranda, M.

    2014-01-01

    In the context of the management of research projects development it is necessary to have tools to monitor and evaluate progress and the performance of the projects, as well as their results and the impact on society (international agencies of the United Nations and the States 2002 and 2005 Paris Declaration), with the objective of to ensure their contribution to the social and economic development of countries. Many organizations, agencies and Governments apply different methodologies (IDB, World Bank, UNDP, ECLAC, UNESCO; UNICEF, Canada, Japan, other) for these purposes. In the results-based project management system not only paramount is the process or product itself, but also the result or impact of the project (if the program/project produced the effects desired persons, households and institutions and whether those effects are attributable to the intervention of the program / project). The work shows a methodology that allows for a qualitative and quantitative evaluation of impact of research projects and has been result of experience in project management of international collaboration with the International Agency for Atomic Energy (IAEA) and the Cuban Nuclear programme. (author)

  11. Genome editing in pluripotent stem cells: research and therapeutic applications

    Deleidi, Michela, E-mail: michela.deleidi@dzne.de [German Center for Neurodegenerative Diseases (DZNE) Tübingen within the Helmholtz Association, Tübingen (Germany); Hertie Institute for Clinical Brain Research, University of Tübingen (Germany); Yu, Cong [Department of Microbiology and Immunology, School of Medicine and Biomedical Sciences, University at Buffalo, New York (United States)

    2016-05-06

    Recent progress in human pluripotent stem cell (hPSC) and genome editing technologies has opened up new avenues for the investigation of human biology in health and disease as well as the development of therapeutic applications. Gene editing approaches with programmable nucleases have been successfully established in hPSCs and applied to study gene function, develop novel animal models and perform genetic and chemical screens. Several studies now show the successful editing of disease-linked alleles in somatic and patient-derived induced pluripotent stem cells (iPSCs) as well as in animal models. Importantly, initial clinical trials have shown the safety of programmable nucleases for ex vivo somatic gene therapy. In this context, the unlimited proliferation potential and the pluripotent properties of iPSCs may offer advantages for gene targeting approaches. However, many technical and safety issues still need to be addressed before genome-edited iPSCs are translated into the clinical setting. Here, we provide an overview of the available genome editing systems and discuss opportunities and perspectives for their application in basic research and clinical practice, with a particular focus on hPSC based research and gene therapy approaches. Finally, we discuss recent research on human germline genome editing and its social and ethical implications. - Highlights: • Programmable nucleases have proven efficient and specific for genome editing in human pluripotent stem cells (hPSCs). • Genome edited hPSCs can be employed to study gene function in health and disease as well as drug and chemical screens. • Genome edited hPSCs hold great promise for ex vivo gene therapy approaches. • Technical and safety issues should be first addressed to advance the clinical use of gene-edited hPSCs.

  12. Genome editing in pluripotent stem cells: research and therapeutic applications

    Deleidi, Michela; Yu, Cong

    2016-01-01

    Recent progress in human pluripotent stem cell (hPSC) and genome editing technologies has opened up new avenues for the investigation of human biology in health and disease as well as the development of therapeutic applications. Gene editing approaches with programmable nucleases have been successfully established in hPSCs and applied to study gene function, develop novel animal models and perform genetic and chemical screens. Several studies now show the successful editing of disease-linked alleles in somatic and patient-derived induced pluripotent stem cells (iPSCs) as well as in animal models. Importantly, initial clinical trials have shown the safety of programmable nucleases for ex vivo somatic gene therapy. In this context, the unlimited proliferation potential and the pluripotent properties of iPSCs may offer advantages for gene targeting approaches. However, many technical and safety issues still need to be addressed before genome-edited iPSCs are translated into the clinical setting. Here, we provide an overview of the available genome editing systems and discuss opportunities and perspectives for their application in basic research and clinical practice, with a particular focus on hPSC based research and gene therapy approaches. Finally, we discuss recent research on human germline genome editing and its social and ethical implications. - Highlights: • Programmable nucleases have proven efficient and specific for genome editing in human pluripotent stem cells (hPSCs). • Genome edited hPSCs can be employed to study gene function in health and disease as well as drug and chemical screens. • Genome edited hPSCs hold great promise for ex vivo gene therapy approaches. • Technical and safety issues should be first addressed to advance the clinical use of gene-edited hPSCs.

  13. Light water reactor safety research project

    Markoczy, G.; Aksan, S.N.; Behringer, K.; Prodan, M.; Stierli, F.; Ullrich, G.

    1980-07-01

    The research and development activities for the safety of Light Water Power Reactors carried out 1979 at the Swiss Federal Institute for Reactor Research are described. Considerations concerning the necessity, objectives and size of the Safety Research Project are presented, followed by a detailed discussion of the activities in the five tasks of the program, covering fracture mechanics and nondestructive testing, thermal-hydraulics, reactor noise analysis and pressure vessel steel surveillance. (Auth.)

  14. Nuclear safety research project. Annual report 1995

    Hueper, R.

    1996-08-01

    The reactor safety R and D work of the Karlsruhe Research Centre (FZK) has been part of the Nuclear Safety Research Project (PSF) since 1990. The present annual report 1995 summarizes the R and D results. The research tasks are coordinated in agreement with internal and external working groups. The contributions to this report correspond to the status of early 1996. An abstract in English precedes each of them, whenever the respective article is written in German. (orig.) [de

  15. Balancing the risks and benefits of genomic data sharing: genome research participants' perspectives.

    Oliver, J M; Slashinski, M J; Wang, T; Kelly, P A; Hilsenbeck, S G; McGuire, A L

    2012-01-01

    Technological advancements are rapidly propelling the field of genome research forward, while lawmakers attempt to keep apace with the risks these advances bear. Balancing normative concerns of maximizing data utility and protecting human subjects, whose privacy is at risk due to the identifiability of DNA data, are central to policy decisions. Research on genome research participants making real-time data sharing decisions is limited; yet, these perspectives could provide critical information to ongoing deliberations. We conducted a randomized trial of 3 consent types affording varying levels of control over data release decisions. After debriefing participants about the randomization process, we invited them to a follow-up interview to assess their attitudes toward genetic research, privacy and data sharing. Participants were more restrictive in their reported data sharing preferences than in their actual data sharing decisions. They saw both benefits and risks associated with sharing their genomic data, but risks were seen as less concrete or happening in the future, and were largely outweighed by purported benefits. Policymakers must respect that participants' assessment of the risks and benefits of data sharing and their privacy-utility determinations, which are associated with their final data release decisions, vary. In order to advance the ethical conduct of genome research, proposed policy changes should carefully consider these stakeholder perspectives. Copyright © 2011 S. Karger AG, Basel.

  16. The Genomes OnLine Database (GOLD) v.4: status of genomic and metagenomic projects and their associated metadata

    Pagani, Ioanna; Liolios, Konstantinos; Jansson, Jakob; Chen, I-Min A.; Smirnova, Tatyana; Nosrat, Bahador; Markowitz, Victor M.; Kyrpides, Nikos C.

    2012-01-01

    The Genomes OnLine Database (GOLD, http://www.genomesonline.org/) is a comprehensive resource for centralized monitoring of genome and metagenome projects worldwide. Both complete and ongoing projects, along with their associated metadata, can be accessed in GOLD through precomputed tables and a search page. As of September 2011, GOLD, now on version 4.0, contains information for 11 472 sequencing projects, of which 2907 have been completed and their sequence data has been deposited in a public repository. Out of these complete projects, 1918 are finished and 989 are permanent drafts. Moreover, GOLD contains information for 340 metagenome studies associated with 1927 metagenome samples. GOLD continues to expand, moving toward the goal of providing the most comprehensive repository of metadata information related to the projects and their organisms/environments in accordance with the Minimum Information about any (x) Sequence specification and beyond. PMID:22135293

  17. Rhipicephalus (Boophilus) microplus strain Deutsch, whole genome shotgun sequencing project first submission of genome sequence

    The size and repetitive nature of the Rhipicephalus microplus genome makes obtaining a full genome sequence difficult. Cot filtration/selection techniques were used to reduce the repetitive fraction of the tick genome and enrich for the fraction of DNA with gene-containing regions. The Cot-selected ...

  18. Combining genomic and proteomic approaches for epigenetics research

    Han, Yumiao; Garcia, Benjamin A

    2014-01-01

    Epigenetics is the study of changes in gene expression or cellular phenotype that do not change the DNA sequence. In this review, current methods, both genomic and proteomic, associated with epigenetics research are discussed. Among them, chromatin immunoprecipitation (ChIP) followed by sequencing and other ChIP-based techniques are powerful techniques for genome-wide profiling of DNA-binding proteins, histone post-translational modifications or nucleosome positions. However, mass spectrometry-based proteomics is increasingly being used in functional biological studies and has proved to be an indispensable tool to characterize histone modifications, as well as DNA–protein and protein–protein interactions. With the development of genomic and proteomic approaches, combination of ChIP and mass spectrometry has the potential to expand our knowledge of epigenetics research to a higher level. PMID:23895656

  19. Genome typing of nonhuman primate models: implications for biomedical research.

    Haus, Tanja; Ferguson, Betsy; Rogers, Jeffrey; Doxiadis, Gaby; Certa, Ulrich; Rose, Nicola J; Teepe, Robert; Weinbauer, Gerhard F; Roos, Christian

    2014-11-01

    The success of personalized medicine rests on understanding the genetic variation between individuals. Thus, as medical practice evolves and variation among individuals becomes a fundamental aspect of clinical medicine, a thorough consideration of the genetic and genomic information concerning the animals used as models in biomedical research also becomes critical. In particular, nonhuman primates (NHPs) offer great promise as models for many aspects of human health and disease. These are outbred species exhibiting substantial levels of genetic variation; however, understanding of the contribution of this variation to phenotypes is lagging behind in NHP species. Thus, there is a pivotal need to address this gap and define strategies for characterizing both genomic content and variability within primate models of human disease. Here, we discuss the current state of genomics of NHP models and offer guidelines for future work to ensure continued improvement and utility of this line of biomedical research. Copyright © 2014 Elsevier Ltd. All rights reserved.

  20. Are Project Developers Knights and Researchers Queens?

    Vinstrup, Anya Bjørn

    2014-01-01

    How do project developers at universities view their customers – the researchers, and how do they see themselves as a profession? Does this view influence their motivation and what challenges does it impose? Taking elements of theory from Public Service Motivation (PSM) and linking it with a small...... empirically based survey among the project developers at a centrally located office at a university in Denmark – these questions are sought to be answered. The focal point being the motivation of the project developer, with special emphasis on their user perception, and the practical implications it has...... for leadership and organisational structures....

  1. Bio Diesel Cellulosic Ethanol Research Project

    Hanlon, Edward A. [County of Hendry, FL (United States); Capece, John C. [County of Hendry, FL (United States); McAvoy, Eugene [County of Hendry, FL (United States); Hodges, Alan Wayne [County of Hendry, FL (United States); Shukla, Sanjay [County of Hendry, FL (United States); Ozores-Hamilton, Monica [County of Hendry, FL (United States); Gilbert, Rob [County of Hendry, FL (United States); Wright, Alan [County of Hendry, FL (United States); Baucum, L. [County of Hendry, FL (United States)

    2017-02-07

    The objective of the project is to create the Hendry County Sustainable Biofuels Center and initiate its research, development, and education programs. The mission is to develop engineering and economic assessment methods to evaluate the natural resources impacts of biomass farming and fuel conversion systems; provide sustainability assessments of specific biofuels productions proposals; develop biomass farming and fuel conversion systems that are compatible with south Florida ecosystem restoration priorities; create ecosystem services opportunities and structures to diversify farm income; monitor the range of research and development activities necessary to the creation of sutstainable biofuels production systems in south Florida, identify gaps in the regional research, and assist in the development and coordination of additional projects to fill out the required knowledge base; prepare the workforce of southwest Florida for employment in biofuels related professions; and assist businesses & governmental design and realize sustainable biofuels projects.

  2. 76 FR 65204 - National Human Genome Research Institute; Notice of Closed Meetings

    2011-10-20

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome... Review Officer, Scientific Review Branch, National Human Genome Research Institute, 5635 Fishers Lane...

  3. 77 FR 12604 - National Human Genome Research Institute; Notice of Closed Meetings

    2012-03-01

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. >Name of Committee: National Human Genome Research... review and evaluate contract proposals. Place: National Human Genome Reseach Institute, 5635 Fishers Lane...

  4. Advanced energy projects FY 1994 research summaries

    1994-09-01

    The Division of Advanced Energy Projects (AEP) provides support to explore the feasibility of novel, energy-related concepts that evolve from advances in basic research. These concepts are typically at an early stage of scientific definition and, therefore, are premature for consideration by applied research or technology development programs. The AEP also supports high-risk, exploratory concepts that do not readily fit into a program area but could have several applications that may span scientific disciplines or technical areas. Projects supported by the Division arise from unsolicited ideas and concepts submitted by researchers. The portfolio of projects is dynamic and reflects the broad role of the Department in supporting research and development for improving the Nation's energy outlook. FY 1994 projects include the following topical areas: novel materials for energy technology; renewable and biodegradable materials; exploring uses of new scientific discoveries; alternate pathways to energy efficiency; alternative energy sources; and innovative approaches to waste treatment and reduction. Summaries are given for 66 projects

  5. Genomic research and data-mining technology: implications for personal privacy and informed consent.

    Tavani, Herman T

    2004-01-01

    This essay examines issues involving personal privacy and informed consent that arise at the intersection of information and communication technology (ICT) and population genomics research. I begin by briefly examining the ethical, legal, and social implications (ELSI) program requirements that were established to guide researchers working on the Human Genome Project (HGP). Next I consider a case illustration involving deCODE Genetics, a privately owned genetic company in Iceland, which raises some ethical concerns that are not clearly addressed in the current ELSI guidelines. The deCODE case also illustrates some ways in which an ICT technique known as data mining has both aided and posed special challenges for researchers working in the field of population genomics. On the one hand, data-mining tools have greatly assisted researchers in mapping the human genome and in identifying certain "disease genes" common in specific populations (which, in turn, has accelerated the process of finding cures for diseases tha affect those populations). On the other hand, this technology has significantly threatened the privacy of research subjects participating in population genomics studies, who may, unwittingly, contribute to the construction of new groups (based on arbitrary and non-obvious patterns and statistical correlations) that put those subjects at risk for discrimination and stigmatization. In the final section of this paper I examine some ways in which the use of data mining in the context of population genomics research poses a critical challenge for the principle of informed consent, which traditionally has played a central role in protecting the privacy interests of research subjects participating in epidemiological studies.

  6. Parallel computing in genomic research: advances and applications

    Ocaña K

    2015-11-01

    Full Text Available Kary Ocaña,1 Daniel de Oliveira2 1National Laboratory of Scientific Computing, Petrópolis, Rio de Janeiro, 2Institute of Computing, Fluminense Federal University, Niterói, Brazil Abstract: Today's genomic experiments have to process the so-called "biological big data" that is now reaching the size of Terabytes and Petabytes. To process this huge amount of data, scientists may require weeks or months if they use their own workstations. Parallelism techniques and high-performance computing (HPC environments can be applied for reducing the total processing time and to ease the management, treatment, and analyses of this data. However, running bioinformatics experiments in HPC environments such as clouds, grids, clusters, and graphics processing unit requires the expertise from scientists to integrate computational, biological, and mathematical techniques and technologies. Several solutions have already been proposed to allow scientists for processing their genomic experiments using HPC capabilities and parallelism techniques. This article brings a systematic review of literature that surveys the most recently published research involving genomics and parallel computing. Our objective is to gather the main characteristics, benefits, and challenges that can be considered by scientists when running their genomic experiments to benefit from parallelism techniques and HPC capabilities. Keywords: high-performance computing, genomic research, cloud computing, grid computing, cluster computing, parallel computing

  7. Research reactor job analysis - A project description

    Yoder, John; Bessler, Nancy J.

    1988-01-01

    Addressing the need of the improved training in nuclear industry, nuclear utilities established training program guidelines based on Performance-Based Training (PBT) concepts. The comparison of commercial nuclear power facilities with research and test reactors owned by the U.S. Department of Energy (DOE), made in an independent review of personnel selection, training, and qualification requirements for DOE-owned reactors pointed out that the complexity of the most critical tasks in research reactors is less than that in power reactors. The U.S. Department of Energy (DOE) started a project by commissioning Oak Ridge Associated Universities (ORAU) to conduct a job analysis survey of representative research reactor facilities. The output of the project consists of two publications: Volume 1 - Research Reactor Job Analysis: Overview, which contains an Introduction, Project Description, Project Methodology,, and. An Overview of Performance-Based Training (PBT); and Volume 2 - Research Reactor Job Analysis: Implementation, which contains Guidelines for Application of Preliminary Task Lists and Preliminary Task Lists for Reactor Operators and Supervisory Reactor Operators

  8. Commentary: The Materials Project: A materials genome approach to accelerating materials innovation

    Anubhav Jain

    2013-07-01

    Full Text Available Accelerating the discovery of advanced materials is essential for human welfare and sustainable, clean energy. In this paper, we introduce the Materials Project (www.materialsproject.org, a core program of the Materials Genome Initiative that uses high-throughput computing to uncover the properties of all known inorganic materials. This open dataset can be accessed through multiple channels for both interactive exploration and data mining. The Materials Project also seeks to create open-source platforms for developing robust, sophisticated materials analyses. Future efforts will enable users to perform ‘‘rapid-prototyping’’ of new materials in silico, and provide researchers with new avenues for cost-effective, data-driven materials design.

  9. Lawrence Livermore National Laboratory- Completing the Human Genome Project and Triggering Nearly $1 Trillion in U.S. Economic Activity

    Stewart, Jeffrey S. [Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States)

    2015-07-28

    The success of the Human Genome project is already nearing $1 Trillion dollars of U.S. economic activity. Lawrence Livermore National Laboratory (LLNL) was a co-leader in one of the biggest biological research effort in history, sequencing the Human Genome Project. This ambitious research effort set out to sequence the approximately 3 billion nucleotides in the human genome, an effort many thought was nearly impossible. Deoxyribonucleic acid (DNA) was discovered in 1869, and by 1943 came the discovery that DNA was a molecule that encodes the genetic instructions used in the development and functioning of living organisms and many viruses. To make full use of the information, scientists needed to first sequence the billions of nucleotides to begin linking them to genetic traits and illnesses, and eventually more effective treatments. New medical discoveries and improved agriculture productivity were some of the expected benefits. While the potential benefits were vast, the timeline (over a decade) and cost ($3.8 Billion) exceeded what the private sector would normally attempt, especially when this would only be the first phase toward the path to new discoveries and market opportunities. The Department of Energy believed its best research laboratories could meet this Grand Challenge and soon convinced the National Institute of Health to formally propose the Human Genome project to the federal government. The U.S. government accepted the risk and challenge to potentially create new healthcare and food discoveries that could benefit the world and the U.S. Industry.

  10. The Whole Genome Assembly and Comparative Genomic Research of Thellungiella parvula (Extremophile Crucifer Mitochondrion

    Xuelin Wang

    2016-01-01

    Full Text Available The complete nucleotide sequences of the mitochondrial (mt genome of an extremophile species Thellungiella parvula (T. parvula have been determined with the lengths of 255,773 bp. T. parvula mt genome is a circular sequence and contains 32 protein-coding genes, 19 tRNA genes, and three ribosomal RNA genes with a 11.5% coding sequence. The base composition of 27.5% A, 27.5% T, 22.7% C, and 22.3% G in descending order shows a slight bias of 55% AT. Fifty-three repeats were identified in the mitochondrial genome of T. parvula, including 24 direct repeats, 28 tandem repeats (TRs, and one palindromic repeat. Furthermore, a total of 199 perfect microsatellites have been mined with a high A/T content (83.1% through simple sequence repeat (SSR analysis and they were distributed unevenly within this mitochondrial genome. We also analyzed other plant mitochondrial genomes’ evolution in general, providing clues for the understanding of the evolution of organelles genomes in plants. Comparing with other Brassicaceae species, T. parvula is related to Arabidopsis thaliana whose characters of low temperature resistance have been well documented. This study will provide important genetic tools for other Brassicaceae species research and improve yields of economically important plants.

  11. Designing and Conducting Health Systems Research Projects ...

    Home · Resources · Publications. Designing and Conducting Health Systems Research Projects Volume 1: Proposal Development and Fieldwork ... IDRC and the United Kingdom's Global AMR Innovation Fund—managed by the ... New website will help record vital life events to improve access to services for all.

  12. Using Replication Projects in Teaching Research Methods

    Standing, Lionel G.; Grenier, Manuel; Lane, Erica A.; Roberts, Meigan S.; Sykes, Sarah J.

    2014-01-01

    It is suggested that replication projects may be valuable in teaching research methods, and also address the current need in psychology for more independent verification of published studies. Their use in an undergraduate methods course is described, involving student teams who performed direct replications of four well-known experiments, yielding…

  13. Importing statistical measures into Artemis enhances gene identification in the Leishmania genome project

    McDonagh Paul D

    2003-06-01

    Full Text Available Abstract Background Seattle Biomedical Research Institute (SBRI as part of the Leishmania Genome Network (LGN is sequencing chromosomes of the trypanosomatid protozoan species Leishmania major. At SBRI, chromosomal sequence is annotated using a combination of trained and untrained non-consensus gene-prediction algorithms with ARTEMIS, an annotation platform with rich and user-friendly interfaces. Results Here we describe a methodology used to import results from three different protein-coding gene-prediction algorithms (GLIMMER, TESTCODE and GENESCAN into the ARTEMIS sequence viewer and annotation tool. Comparison of these methods, along with the CODONUSAGE algorithm built into ARTEMIS, shows the importance of combining methods to more accurately annotate the L. major genomic sequence. Conclusion An improvised and powerful tool for gene prediction has been developed by importing data from widely-used algorithms into an existing annotation platform. This approach is especially fruitful in the Leishmania genome project where there is large proportion of novel genes requiring manual annotation.

  14. Genomic research with human samples. Points of view from scientists and research subjects about disclosure of results and risks of genomic research. Ethical and empirical approach.

    Valle Mansilla, José Ignacio

    2011-01-01

    Biomedical researchers often now ask subjects to donate samples to be deposited in biobanks. This is not only of interest to researchers, patients and society as a whole can benefit from the improvements in diagnosis, treatment, and prevention that the advent of genomic medicine portends. However, there is a growing debate regarding the social and ethical implications of creating biobanks and using stored human tissue samples for genomic research. Our aim was to identify factors related to both scientists and patients' preferences regarding the sort of information to convey to subjects about the results of the study and the risks related to genomic research. The method used was a survey addressed to 204 scientists and 279 donors from the U.S. and Spain. In this sample, researchers had already published genomic epidemiology studies; and research subjects had actually volunteered to donate a human sample for genomic research. Concerning the results, patients supported more frequently than scientists their right to know individual results from future genomic research. These differences were statistically significant after adjusting by the opportunity to receive genetic research results from the research they had previously participated and their perception of risks regarding genetic information compared to other clinical data. A slight majority of researchers supported informing participants about individual genomic results only if the reliability and clinical validity of the information had been established. Men were more likely than women to believe that patients should be informed of research results even if these conditions were not met. Also among patients, almost half of them would always prefer to be informed about individual results from future genomic research. The three main factors associated to a higher support of a non-limited access to individual results were: being from the US, having previously been offered individual information and considering

  15. Outline of criticality safety research project

    Kobayashi, Iwao; Tachimori, Shoichi; Suzaki, Takenori; Takeshita, Isao; Miyoshi, Yoshinori; Nakajima, Ken; Sakurai, Satoshi; Yanagisawa, Hiroshi

    1987-01-01

    As the power generation capacity of LWRs in Japan increased, the establishment and development of nuclear fuel cycle have become the important subject. Conforming to the safety research project of the nation, the Japan Atomic Energy Research Institute has advanced the project of constructing a new research facility, that is, Nuclear Fuel Cycle Engineering Research Facility (NUCEF). In this facility, it is planned to carry out the research on criticality safety, upgraded reprocessing techniques, and the treatment and disposal of transuranium element wastes. In this paper, the subjects of criticality safety research and the research carried out with a criticality safety experiment facility which is expected to be installed in the NUCEF are briefly reported. The experimental data obtained from the criticality safety handbooks and published literatures in foreign countries are short of the data on the mixture of low enriched uranium and plutonium which is treated in the reprocessing of spent fuel from LWRs. The acquisition of the criticality data for various forms of fuel, the elucidation of the scenario of criticality accidents, and the soundness of the confinement system for gaseous fission products and plutonium are the main subjects. The Static Criticality Safety Facility, Transient Criticality Safety Facility and pulse column system are the main facilities. (Kako, I.)

  16. BIOETHICS METHODS IN THE ETHICAL, LEGAL, AND SOCIAL IMPLICATIONS OF THE HUMAN GENOME PROJECT LITERATURE

    Walker, Rebecca; Morrissey, Clair

    2013-01-01

    While bioethics as a field has concerned itself with methodological issues since the early years, there has been no systematic examination of how ethics is incorporated into research on the Ethical, Legal and Social Implications (ELSI) of the Human Genome Project. Yet ELSI research may bear a particular burden of investigating and substantiating its methods given public funding, an explicitly cross-disciplinary approach, and the perceived significance of adequate responsiveness to advances in genomics. We undertook a qualitative content analysis of a sample of ELSI publications appearing between 2003-2008 with the aim of better understanding the methods, aims, and approaches to ethics that ELSI researchers employ. We found that the aims of ethics within ELSI are largely prescriptive and address multiple groups. We also found that the bioethics methods used in the ELSI literature are both diverse between publications and multiple within publications, but are usually not themselves discussed or employed as suggested by bioethics method proponents. Ethics in ELSI is also sometimes undistinguished from related inquiries (such as social, legal, or political investigations). PMID:23796275

  17. Project for a renewable energy research centre

    Andrea Giachetta

    2011-04-01

    Full Text Available In Liguria, where sustainable approaches to the design, construction and management of buildings enjoy scant currency, the idea of a company from Milan (FERA s.r.l. setting up a research centre for studies into renewable energy resources, could well open up very interesting development opportunities.The project includes: environmental rehabilitation (restoration projects; strategies for the protection of water resources and waste management systems; passive and active solar systems (solar thermal and experiments with thermodynamic solar energy; hyperinsulation systems, passive cooling of buildings; use of natural materials; bio-climatic use of vegetation. The author describes the project content within the context of the multidisciplinary work that has gone into it.

  18. ATGC: a database of orthologous genes from closely related prokaryotic genomes and a research platform for microevolution of prokaryotes

    Novichkov, Pavel S.; Ratnere, Igor; Wolf, Yuri I.; Koonin, Eugene V.; Dubchak, Inna

    2009-07-23

    The database of Alignable Tight Genomic Clusters (ATGCs) consists of closely related genomes of archaea and bacteria, and is a resource for research into prokaryotic microevolution. Construction of a data set with appropriate characteristics is a major hurdle for this type of studies. With the current rate of genome sequencing, it is difficult to follow the progress of the field and to determine which of the available genome sets meet the requirements of a given research project, in particular, with respect to the minimum and maximum levels of similarity between the included genomes. Additionally, extraction of specific content, such as genomic alignments or families of orthologs, from a selected set of genomes is a complicated and time-consuming process. The database addresses these problems by providing an intuitive and efficient web interface to browse precomputed ATGCs, select appropriate ones and access ATGC-derived data such as multiple alignments of orthologous proteins, matrices of pairwise intergenomic distances based on genome-wide analysis of synonymous and nonsynonymous substitution rates and others. The ATGC database will be regularly updated following new releases of the NCBI RefSeq. The database is hosted by the Genomics Division at Lawrence Berkeley National laboratory and is publicly available at http://atgc.lbl.gov.

  19. Genephony: a knowledge management tool for genome-wide research

    Riva Alberto

    2009-09-01

    Full Text Available Abstract Background One of the consequences of the rapid and widespread adoption of high-throughput experimental technologies is an exponential increase of the amount of data produced by genome-wide experiments. Researchers increasingly need to handle very large volumes of heterogeneous data, including both the data generated by their own experiments and the data retrieved from publicly available repositories of genomic knowledge. Integration, exploration, manipulation and interpretation of data and information therefore need to become as automated as possible, since their scale and breadth are, in general, beyond the limits of what individual researchers and the basic data management tools in normal use can handle. This paper describes Genephony, a tool we are developing to address these challenges. Results We describe how Genephony can be used to manage large datesets of genomic information, integrating them with existing knowledge repositories. We illustrate its functionalities with an example of a complex annotation task, in which a set of SNPs coming from a genotyping experiment is annotated with genes known to be associated to a phenotype of interest. We show how, thanks to the modular architecture of Genephony and its user-friendly interface, this task can be performed in a few simple steps. Conclusion Genephony is an online tool for the manipulation of large datasets of genomic information. It can be used as a browser for genomic data, as a high-throughput annotation tool, and as a knowledge discovery tool. It is designed to be easy to use, flexible and extensible. Its knowledge management engine provides fine-grained control over individual data elements, as well as efficient operations on large datasets.

  20. Sequencing and characterizing the genome of Estrella lausannensis as an undergraduate project: training students and biological insights

    Claire eBertelli

    2015-02-01

    Full Text Available With the widespread availability of high-throughput sequencing technologies, sequencing projects have become pervasive in the molecular life sciences. The huge bulk of data generated daily must be analyzed further by biologists with skills in bioinformatics and by embedded bioinformaticians, i.e., bioinformaticians integrated in wet lab research groups. Thus, students interested in molecular life sciences must be trained in the main steps of genomics: sequencing, assembly, annotation and analysis. To reach that goal, a practical course has been set up for master students at the University of Lausanne: the Sequence a genome class. At the beginning of the academic year, a few bacterial species whose genome is unknown are provided to the students, who sequence and assemble the genome(s and perform manual annotation. Here, we report the progress of the first class from September 2010 to June 2011 and the results obtained by seven master students who specifically assembled and annotated the genome of Estrella lausannensis, an obligate intracellular bacterium related to Chlamydia. The draft genome of Estrella is composed of 29 scaffolds encompassing 2,819,825 bp that encode for 2,233 putative proteins. Estrella also possesses a 9,136 bp plasmid that encodes for 14 genes, among which we found an integrase and a toxin/antitoxin module. Like all other members of the Chlamydiales order, Estrella possesses a highly conserved type III secretion system, considered as a key virulence factor. The annotation of the Estrella genome also allowed the characterization of the metabolic abilities of this strictly intracellular bacterium. Altogether, the students provided the scientific community with the Estrella genome sequence and a preliminary understanding of the biology of this recently-discovered bacterial genus, while learning to use cutting-edge technologies for sequencing and to perform bioinformatics analyses.

  1. Parallel computing in genomic research: advances and applications.

    Ocaña, Kary; de Oliveira, Daniel

    2015-01-01

    Today's genomic experiments have to process the so-called "biological big data" that is now reaching the size of Terabytes and Petabytes. To process this huge amount of data, scientists may require weeks or months if they use their own workstations. Parallelism techniques and high-performance computing (HPC) environments can be applied for reducing the total processing time and to ease the management, treatment, and analyses of this data. However, running bioinformatics experiments in HPC environments such as clouds, grids, clusters, and graphics processing unit requires the expertise from scientists to integrate computational, biological, and mathematical techniques and technologies. Several solutions have already been proposed to allow scientists for processing their genomic experiments using HPC capabilities and parallelism techniques. This article brings a systematic review of literature that surveys the most recently published research involving genomics and parallel computing. Our objective is to gather the main characteristics, benefits, and challenges that can be considered by scientists when running their genomic experiments to benefit from parallelism techniques and HPC capabilities.

  2. Research projects in radiobiology and radiation protection

    NONE

    1960-04-15

    Of the research projects sponsored by the International Atomic Energy Agency quite a large number are concerned with the biological effects of ionizing radiation. That itself, of course, is a very wide field covering such subjects as the nature and mechanism of radiation damage, genetic mutations, the varying radiosensitivity of different organisms, ways of modifying the natural sensitivity or resistance, and biological and chemical means of protection. In all these branches of enquiry, the Agency has awarded research contracts to scientific institutes or laboratories in different countries

  3. Research projects in radiobiology and radiation protection

    1960-01-01

    Of the research projects sponsored by the International Atomic Energy Agency quite a large number are concerned with the biological effects of ionizing radiation. That itself, of course, is a very wide field covering such subjects as the nature and mechanism of radiation damage, genetic mutations, the varying radiosensitivity of different organisms, ways of modifying the natural sensitivity or resistance, and biological and chemical means of protection. In all these branches of enquiry, the Agency has awarded research contracts to scientific institutes or laboratories in different countries

  4. Supporting research projects via student workshops

    Marschall, Max; Schmeck, Michel; Gengnagel, Christoph

    2016-01-01

    As part of a joint research project between the Centre for Information Technology and Architecture (CITA) and te Department for Structural Design and Technology (KET), a one week student workshop was organised at the Royal Danish Academy of Fine Arts (KADK) in Copenhagen. This paper outlines...... the teaching methods applied to reach maximum insight from student interaction, despite the unfamiliarity the students had with the research matter: physical and numeric form-finding for lightweight hybrid structures. Hybrid structures are defined here as combining different components of low stiffness...

  5. NGA-West2 Research Project

    Bozorgnia, Yousef; Abrahamson, Norman A.; Al Atik, Linda; Ancheta, Timothy D.; Atkinson, Gail M.; Baker, Jack W.; Baltay, Annemarie S.; Boore, David M.; Campbell, Kenneth W.; Chiou, Brian S.J.; Darragh, Robert B.; Day, Steve; Donahue, Jennifer; Graves, Robert W.; Gregor, Nick; Hanks, Thomas C.; Idriss, I. M.; Kamai, Ronnie; Kishida, Tadahiro; Kottke, Albert; Mahin, Stephen A.; Rezaeian, Sanaz; Rowshandel, Badie; Seyhan, Emel; Shahi, Shrey; Shantz, Tom; Silva, Walter; Spudich, Paul A.; Stewart, Jonathan P.; Watson-Lamprey, Jennie; Wooddell, Kathryn; Youngs, Robert

    2014-01-01

    The NGA-West2 project is a large multidisciplinary, multi-year research program on the Next Generation Attenuation (NGA) models for shallow crustal earthquakes in active tectonic regions. The research project has been coordinated by the Pacific Earthquake Engineering Research Center (PEER), with extensive technical interactions among many individuals and organizations. NGA-West2 addresses several key issues in ground-motion seismic hazard, including updating the NGA database for a magnitude range of 3.0–7.9; updating NGA ground-motion prediction equations (GMPEs) for the “average” horizontal component; scaling response spectra for damping values other than 5%; quantifying the effects of directivity and directionality for horizontal ground motion; resolving discrepancies between the NGA and the National Earthquake Hazards Reduction Program (NEHRP) site amplification factors; analysis of epistemic uncertainty for NGA GMPEs; and developing GMPEs for vertical ground motion. This paper presents an overview of the NGA-West2 research program and its subprojects.

  6. Promoting synergistic research and education in genomics and bioinformatics.

    Yang, Jack Y; Yang, Mary Qu; Zhu, Mengxia Michelle; Arabnia, Hamid R; Deng, Youping

    2008-01-01

    Bioinformatics and Genomics are closely related disciplines that hold great promises for the advancement of research and development in complex biomedical systems, as well as public health, drug design, comparative genomics, personalized medicine and so on. Research and development in these two important areas are impacting the science and technology.High throughput sequencing and molecular imaging technologies marked the beginning of a new era for modern translational medicine and personalized healthcare. The impact of having the human sequence and personalized digital images in hand has also created tremendous demands of developing powerful supercomputing, statistical learning and artificial intelligence approaches to handle the massive bioinformatics and personalized healthcare data, which will obviously have a profound effect on how biomedical research will be conducted toward the improvement of human health and prolonging of human life in the future. The International Society of Intelligent Biological Medicine (http://www.isibm.org) and its official journals, the International Journal of Functional Informatics and Personalized Medicine (http://www.inderscience.com/ijfipm) and the International Journal of Computational Biology and Drug Design (http://www.inderscience.com/ijcbdd) in collaboration with International Conference on Bioinformatics and Computational Biology (Biocomp), touch tomorrow's bioinformatics and personalized medicine throughout today's efforts in promoting the research, education and awareness of the upcoming integrated inter/multidisciplinary field. The 2007 international conference on Bioinformatics and Computational Biology (BIOCOMP07) was held in Las Vegas, the United States of American on June 25-28, 2007. The conference attracted over 400 papers, covering broad research areas in the genomics, biomedicine and bioinformatics. The Biocomp 2007 provides a common platform for the cross fertilization of ideas, and to help shape knowledge and

  7. Abstract and research accomplishments of University Coal Research Projects

    NONE

    1995-06-01

    The Principal Investigators of the grants supported by the University Coal Research Program were requested to submit abstracts and highlight accomplishments of their respective projects in time for distribution at a conference on June 13--14, 1995 at Tennessee State University in Nashville, Tennessee. This book is a compilation of the material received in response to that request. For convenience, the 70 grants reported in this book are stored into eight technical areas, Coal Science, Coal Surface Science, Reaction Chemistry, Advanced Process Concepts, Engineering Fundamentals and Thermodynamics, Environmental Science, high Temperature Phenomena, and Special topics. Indexes are provided for locating projects by subject, principal investigators, and contracting organizations. Each extended abstract describes project objectives, work accomplished, significance to the Fossil Energy Program, and plans for the next year.

  8. International Interdisciplinary Research Institute Project in Senegal

    Gueye, Paul

    2010-02-01

    The project of an interdisciplinary research institute in Senegal was initiated in 1993 in Senegal (West Africa) and became a template for a similar project in the US in 1999. Since then, numerous meetings and presentations have been held at various national and international institutions, workshops and conferences. The current development of this partnership includes drafts for a full design of all systems at each facility, as well as the physics, applied health and educational programs to be implemented. The Senegal facility was conceived for scientific capacity building and equally to act as a focal point aimed at using the local scientific expertise. An anticipated outcome would be a contribution to the reduction of an ever-growing brain drain process suffered by the country, and the African continent in general. The development of the project led also to a strong African orientation of the facility: built for international collaboration, it is to be a pan-African endeavor and to serve primarily African countries. The facility received a presidential approval in a 2003 meeting and will develop an interdisciplinary program centered on a strong materials science research which will also allow for the establishment of an advanced analytical (physical chemistry) laboratory. A central part of the facility will be linked to state-of-the art accelerator mass spectrometry, cyclotron and low energy electromagnetic accelerator systems. )

  9. Annual review of research projects 1987

    Keam, D.W.

    1989-04-01

    The Australian Radiation Laboratory is a national laboratory whose function is to assist the users of radiation, and those who regulate its use, to ensure that wherever radiation is encountered, it is managed in the safest possible way. In performing this function the Laboratory conducts a varied program of applied research in areas which have implications for occupational or public health. This progress report provides a brief outline of current Laboratory research and development projects and their present status. The material is grouped into the following research fields: uranium, radon and its daughters; environmental radiation monitoring; radiopharmaceuticals and nuclear medicine; X-ray and clinical dosimetry; radionuclide metrology; non-ionising electromagnetic radiations; measurement standards in radiation dosimetry; and radiation effects in solids and gases. Refs., figs., tabs

  10. 77 FR 2735 - National Human Genome Research Institute; Notice of Meetings

    2012-01-19

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... personal privacy. Name of Committee: National Advisory Council for Human Genome Research. Date: February 13... Extramural Research National Human Genome Research Institute, 5635 Fishers Lane, Suite 4076, MSC 9305...

  11. 75 FR 2147 - National Human Genome Research Institute; Notice of Meetings

    2010-01-14

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Council for Human Genome Research. The meetings will be open to the public as indicated below, with... Extramural Research, National Human Genome Research Institute, 5635 Fishers Lane, Suite 4076, MSC 9305...

  12. 75 FR 51828 - National Human Genome Research Institute; Notice of Meetings

    2010-08-23

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... personal privacy. Name of Committee: National Advisory Council for Human Genome Research. Date: February 7... Research, National Human Genome Research Institute, 5635 Fishers Lane, Suite 4076, MSC 9305, Bethesda, MD...

  13. Invited review: Genetic and genomic mouse models for livestock research

    D. Arends

    2018-02-01

    Full Text Available Knowledge about the function and functioning of single or multiple interacting genes is of the utmost significance for understanding the organism as a whole and for accurate livestock improvement through genomic selection. This includes, but is not limited to, understanding the ontogenetic and environmentally driven regulation of gene action contributing to simple and complex traits. Genetically modified mice, in which the functions of single genes are annotated; mice with reduced genetic complexity; and simplified structured populations are tools to gain fundamental knowledge of inheritance patterns and whole system genetics and genomics. In this review, we briefly describe existing mouse resources and discuss their value for fundamental and applied research in livestock.

  14. Rabbit models for biomedical research revisited via genome editing approaches

    HONDA, Arata; OGURA, Atsuo

    2017-01-01

    Although the laboratory rabbit has long contributed to many paradigmatic studies in biology and medicine, it is often considered to be a “classical animal model” because in the last 30 years, the laboratory mouse has been more often used, thanks to the availability of embryonic stem cells that have allowed the generation of gene knockout (KO) animals. However, recent genome-editing strategies have changed this unrivaled condition; so far, more than 10 mammalian species have been added to the list of KO animals. Among them, the rabbit has distinct advantages for application of genome-editing systems, such as easy application of superovulation, consistency with fertile natural mating, well-optimized embryo manipulation techniques, and the short gestation period. The rabbit has now returned to the stage of advanced biomedical research. PMID:28579598

  15. O admirável Projeto Genoma Humano The brave New Human Genome Project

    Marilena V. Corrêa

    2002-12-01

    Full Text Available Este artigo apresenta um panorama das implicações sociais, éticas e legais do Projeto Genoma Humano. Os benefícios desse megaprojeto, traduzidos em promessas de uma revolução terapêutica na medicina, não se realizarão sem conflitos. O processo de inovação tecnológica na genética traz problemas de ordens diversas: por um lado, pesquisas em consórcio, patenteamento de genes e produtos da genômica apontam interesses comerciais e dificuldades de gerenciamento dos resultados dessas pesquisas. Esses problemas colocam desafios em termos de uma possível desigualdade no acesso aos benefícios das pesquisas. Por outro lado, temos a questão da informação genética e da proteção de dados individuais sobre riscos e suscetibilidades a doenças e atributos humanos. O problema da definição de homens e mulheres em função de traços genéticos traz uma ameaça discriminatória clara, e se torna agudo em função do reducionismo genético que a mídia ajuda a propagar. As respostas a esses problemas não podem ser esperadas apenas da bioética. A abordagem bioética deve poder combinar-se a análises políticas da reprodução, da sexualidade, da saúde e da medicina. Um vastíssimo espectro de problemas como estes não pode ser discutido em profundidade em um artigo. Optou-se por mapeá-los no sentido de enfatizar em que medida, na reflexão sobre o projeto genoma, a genômica e a pós-genômica, enfrenta-se o desafio de articular aspectos tão diferenciados.This article presents an overview of the social, ethical, and legal implications of the Human Genome Project. The benefits of this mega-project, expressed as promises of a therapeutic revolution in medicine, will not be achieved without conflict. The process of technological innovation in genetics poses problems of various orders: on the one hand, consortium-based research, gene patenting, and genomic products tend to feature commercial interests and management of the results of such

  16. Abstracts and research accomplishments of university coal research projects

    1991-06-01

    The Principal Investigators of the grants supported by the University Coal Research Program were requested to submit abstracts and highlight accomplishments of their projects in time for distribution at a grantees conference. This book is a compilation of the material received in response to the request. Abstracts discuss the following area: coal science, coal surface science, reaction chemistry, advanced process concepts, engineering fundamentals and thermodynamics, environmental science

  17. Abstracts and research accomplishments of university coal research projects

    1991-06-01

    The Principal Investigators of the grants supported by the University Coal Research Program were requested to submit abstracts and highlight accomplishments of their projects in time for distribution at a grantees conference. This book is a compilation of the material received in response to the request. Abstracts discuss the following area: coal science, coal surface science, reaction chemistry, advanced process concepts, engineering fundamentals and thermodynamics, environmental science.

  18. Researchers' experience with project management in health and medical research: Results from a post-project review

    2011-01-01

    Background Project management is widely used to deliver projects on time, within budget and of defined quality. However, there is little published information describing its use in managing health and medical research projects. We used project management in the Alcohol and Pregnancy Project (2006-2008) http://www.ichr.uwa.edu.au/alcoholandpregnancy and in this paper report researchers' opinions on project management and whether it made a difference to the project. Methods A national interdisciplinary group of 20 researchers, one of whom was the project manager, formed the Steering Committee for the project. We used project management to ensure project outputs and outcomes were achieved and all aspects of the project were planned, implemented, monitored and controlled. Sixteen of the researchers were asked to complete a self administered questionnaire for a post-project review. Results The project was delivered according to the project protocol within the allocated budget and time frame. Fifteen researchers (93.8%) completed a questionnaire. They reported that project management increased the effectiveness of the project, communication, teamwork, and application of the interdisciplinary group of researchers' expertise. They would recommend this type of project management for future projects. Conclusions Our post-project review showed that researchers comprehensively endorsed project management in the Alcohol and Pregnancy Project and agreed that project management had contributed substantially to the research. In future, we will project manage new projects and conduct post-project reviews. The results will be used to encourage continuous learning and continuous improvement of project management, and provide greater transparency and accountability of health and medical research. The use of project management can benefit both management and scientific outcomes of health and medical research projects. PMID:21635721

  19. Human genome education model project. Ethical, legal, and social implications of the human genome project: Education of interdisciplinary professionals

    Weiss, J.O. [Alliance of Genetic Support Groups, Chevy Chase, MD (United States); Lapham, E.V. [Georgetown Univ., Washington, DC (United States). Child Development Center

    1996-12-31

    This meeting was held June 10, 1996 at Georgetown University. The purpose of this meeting was to provide a multidisciplinary forum for exchange of state-of-the-art information on the human genome education model. Topics of discussion include the following: psychosocial issues; ethical issues for professionals; legislative issues and update; and education issues.

  20. Research projects on life management: materials ageing

    Gomez Briceno, D.

    1997-01-01

    Materials ageing is a time-dependent process, that involves the loss of availability of nuclear plants. Radiation embrittlement, stress corrosion cracking, irradiation assisted stress corrosion cracking, and thermal ageing are the most relevant time-dependent material degradation mechanisms that can be identified in the materials ageing process. The Materials Programme of Nuclear Energy Institute at CIEMAT carries out research projects and metallurgical examinations of failed components to gain some insight into the mechanisms of materials degradation with a direct impact on the life management of nuclear plants. (Author)

  1. Annual review of research projects 1985

    Keam, D.W.

    1987-04-01

    This progress report provides a brief outline of current Laboratory research and development projects and their present status. The material has been grouped into the following fields: uranium, radon and its daughters; radiation effects in solids and gases; x-rays and clinical dosimetry, measurement standards in radiation dosimetry; radiopharmaceuticals and nuclear medicine; non-ionising electromagnetic radiation; environmental radiochemistry and radiation monitoring. The last category includes residual radioactive contamination at Maralinga, Emu and the Monte Bello Islands from British nuclear weapons tests in Australia, and the public health impact of fall-out from those tests

  2. Enabling a community to dissect an organism: overview of the Neurospora functional genomics project.

    Dunlap, Jay C; Borkovich, Katherine A; Henn, Matthew R; Turner, Gloria E; Sachs, Matthew S; Glass, N Louise; McCluskey, Kevin; Plamann, Michael; Galagan, James E; Birren, Bruce W; Weiss, Richard L; Townsend, Jeffrey P; Loros, Jennifer J; Nelson, Mary Anne; Lambreghts, Randy; Colot, Hildur V; Park, Gyungsoon; Collopy, Patrick; Ringelberg, Carol; Crew, Christopher; Litvinkova, Liubov; DeCaprio, Dave; Hood, Heather M; Curilla, Susan; Shi, Mi; Crawford, Matthew; Koerhsen, Michael; Montgomery, Phil; Larson, Lisa; Pearson, Matthew; Kasuga, Takao; Tian, Chaoguang; Baştürkmen, Meray; Altamirano, Lorena; Xu, Junhuan

    2007-01-01

    A consortium of investigators is engaged in a functional genomics project centered on the filamentous fungus Neurospora, with an eye to opening up the functional genomic analysis of all the filamentous fungi. The overall goal of the four interdependent projects in this effort is to accomplish functional genomics, annotation, and expression analyses of Neurospora crassa, a filamentous fungus that is an established model for the assemblage of over 250,000 species of non yeast fungi. Building from the completely sequenced 43-Mb Neurospora genome, Project 1 is pursuing the systematic disruption of genes through targeted gene replacements, phenotypic analysis of mutant strains, and their distribution to the scientific community at large. Project 2, through a primary focus in Annotation and Bioinformatics, has developed a platform for electronically capturing community feedback and data about the existing annotation, while building and maintaining a database to capture and display information about phenotypes. Oligonucleotide-based microarrays created in Project 3 are being used to collect baseline expression data for the nearly 11,000 distinguishable transcripts in Neurospora under various conditions of growth and development, and eventually to begin to analyze the global effects of loss of novel genes in strains created by Project 1. cDNA libraries generated in Project 4 document the overall complexity of expressed sequences in Neurospora, including alternative splicing alternative promoters and antisense transcripts. In addition, these studies have driven the assembly of an SNP map presently populated by nearly 300 markers that will greatly accelerate the positional cloning of genes.

  3. Competence development organizations in project management on the basis of genomic model methodologies

    Бушуев, Сергей Дмитриевич; Рогозина, Виктория Борисовна; Ярошенко, Юрий Федерович

    2013-01-01

    The matrix technology for identification of organisational competencies in project management is presented in the article. Matrix elements are the components of organizational competence in the field of project management and project management methodology represented in the structure of the genome. The matrix model of competence in the framework of the adopted methodologies and scanning method for identifying organizational competences formalised. Proposed methods for building effective proj...

  4. Scintilla European project, the successful research results

    Sannie, G.; Kondrasov, V.; Corre, G.; Boudergui, K.; Perot, B.; Carasco, C.; Montemont, G. [Commissariat a l' energie atomique et aux energies alternatives, Saclay, Cadarache, Grenoble (France); Peerani, P.; Carrapico, C.; Tomanin, A.; Rosas, F.; Caviglia, M.; Eklund, G.; Tagziria, H. [European Commission, Joint Research Centre, ITU, Nuclear Security Unit, Ispra (Italy); Friedrich, H.; Chmel, S. [Fraunhofer-Institut fuer Naturwissenschaftlich - Technische Trendanalysen - INT, Euskirchen (Germany); De Vita, R.; Manchini, E.; Pavan, M. [Istituto Nazionale di Fisica Nucleare, Sezione di Genova, Genova (Italy); Grattarola, M.; Botta, E. [Ansaldo Nucleare S.P.A, Genova (Italy); Kovacs, A.; Lakosi, L. [Hungarian Academy of Sciences, Centre for Energy Research, Budapest (Hungary); Baumhauer, C.; Deheuninck, T.; Haddad, E. [ARTTIC, Paris (France); Petrossian, G.; Ferragut, A. [SAPHYMO, Massy (France); Dermody, G.; Crossingham, G. [Symetrica Security Ltd, Southampton (United Kingdom)

    2015-07-01

    The Scintilla FP7 project is ended in December 2014, the fruitful results of 3 years development and tests will be presented. SCINTILLA offers the capacity to finding a reliable alternative to Helium-3 based detection systems since the gas which is predominantly used in nuclear safeguards and security applications has now become very expensive, rare and nearly unavailable. SCINTILLA benchmarks results are based on international standards. Radiation Portal tests were carried out at the Joint Research Centre (JRC) in Ispra (Italy). The scintilla project addresses few mains issues. The first is to develop neutron detectors for Radiation Portal Monitor (RPM) and the second is the need of new wearable integrated solutions for Spectrometric Personal Radiation Monitor (SPRM). The partners which provide technical systems of the scintilla project are INFN-ANSALDO, CEA, SYMETRICA and SAPHYMO. For RPM, the objective is to find reliable alternatives to Helium-3 historical neutron detector and provide technical solutions which cope with tests for reliable mobile and cost effective. For Spectrometric Personal Radiation Monitor (SPRM), SCINTILLA is innovating in technology areas that offer complementary capabilities for detecting and identifying gamma, Two CZT (Cadmium Zinc Telluride) addressing contexts of used by first responder technologies, one is a wearable detector and the second is a gamma camera complemented by advanced image processing technologies. (authors)

  5. National Storage Laboratory: a collaborative research project

    Coyne, Robert A.; Hulen, Harry; Watson, Richard W.

    1993-01-01

    The grand challenges of science and industry that are driving computing and communications have created corresponding challenges in information storage and retrieval. An industry-led collaborative project has been organized to investigate technology for storage systems that will be the future repositories of national information assets. Industry participants are IBM Federal Systems Company, Ampex Recording Systems Corporation, General Atomics DISCOS Division, IBM ADSTAR, Maximum Strategy Corporation, Network Systems Corporation, and Zitel Corporation. Industry members of the collaborative project are funding their own participation. Lawrence Livermore National Laboratory through its National Energy Research Supercomputer Center (NERSC) will participate in the project as the operational site and provider of applications. The expected result is the creation of a National Storage Laboratory to serve as a prototype and demonstration facility. It is expected that this prototype will represent a significant advance in the technology for distributed storage systems capable of handling gigabyte-class files at gigabit-per-second data rates. Specifically, the collaboration expects to make significant advances in hardware, software, and systems technology in four areas of need, (1) network-attached high performance storage; (2) multiple, dynamic, distributed storage hierarchies; (3) layered access to storage system services; and (4) storage system management.

  6. The MICROBE Project, A Report from the Interagency Working Group on Microbial Genomics

    2001-01-01

    functional genomics tools (gene chips, technologies, etc.), comparative genomics, proteomics tools, novel culture techniques, in situ analyses, and...interested in supporting microarray/chip development for gene expression analysis for agricultural microbes, bioinformatics, and proteomics , and the...including one fungus ) in various stages of progress. The closely integrated Natural and Accelerated Bioremediation Research Program in the Office of

  7. GDR (Genome Database for Rosaceae: integrated web resources for Rosaceae genomics and genetics research

    Ficklin Stephen

    2004-09-01

    Full Text Available Abstract Background Peach is being developed as a model organism for Rosaceae, an economically important family that includes fruits and ornamental plants such as apple, pear, strawberry, cherry, almond and rose. The genomics and genetics data of peach can play a significant role in the gene discovery and the genetic understanding of related species. The effective utilization of these peach resources, however, requires the development of an integrated and centralized database with associated analysis tools. Description The Genome Database for Rosaceae (GDR is a curated and integrated web-based relational database. GDR contains comprehensive data of the genetically anchored peach physical map, an annotated peach EST database, Rosaceae maps and markers and all publicly available Rosaceae sequences. Annotations of ESTs include contig assembly, putative function, simple sequence repeats, and anchored position to the peach physical map where applicable. Our integrated map viewer provides graphical interface to the genetic, transcriptome and physical mapping information. ESTs, BACs and markers can be queried by various categories and the search result sites are linked to the integrated map viewer or to the WebFPC physical map sites. In addition to browsing and querying the database, users can compare their sequences with the annotated GDR sequences via a dedicated sequence similarity server running either the BLAST or FASTA algorithm. To demonstrate the utility of the integrated and fully annotated database and analysis tools, we describe a case study where we anchored Rosaceae sequences to the peach physical and genetic map by sequence similarity. Conclusions The GDR has been initiated to meet the major deficiency in Rosaceae genomics and genetics research, namely a centralized web database and bioinformatics tools for data storage, analysis and exchange. GDR can be accessed at http://www.genome.clemson.edu/gdr/.

  8. GDR (Genome Database for Rosaceae): integrated web resources for Rosaceae genomics and genetics research.

    Jung, Sook; Jesudurai, Christopher; Staton, Margaret; Du, Zhidian; Ficklin, Stephen; Cho, Ilhyung; Abbott, Albert; Tomkins, Jeffrey; Main, Dorrie

    2004-09-09

    Peach is being developed as a model organism for Rosaceae, an economically important family that includes fruits and ornamental plants such as apple, pear, strawberry, cherry, almond and rose. The genomics and genetics data of peach can play a significant role in the gene discovery and the genetic understanding of related species. The effective utilization of these peach resources, however, requires the development of an integrated and centralized database with associated analysis tools. The Genome Database for Rosaceae (GDR) is a curated and integrated web-based relational database. GDR contains comprehensive data of the genetically anchored peach physical map, an annotated peach EST database, Rosaceae maps and markers and all publicly available Rosaceae sequences. Annotations of ESTs include contig assembly, putative function, simple sequence repeats, and anchored position to the peach physical map where applicable. Our integrated map viewer provides graphical interface to the genetic, transcriptome and physical mapping information. ESTs, BACs and markers can be queried by various categories and the search result sites are linked to the integrated map viewer or to the WebFPC physical map sites. In addition to browsing and querying the database, users can compare their sequences with the annotated GDR sequences via a dedicated sequence similarity server running either the BLAST or FASTA algorithm. To demonstrate the utility of the integrated and fully annotated database and analysis tools, we describe a case study where we anchored Rosaceae sequences to the peach physical and genetic map by sequence similarity. The GDR has been initiated to meet the major deficiency in Rosaceae genomics and genetics research, namely a centralized web database and bioinformatics tools for data storage, analysis and exchange. GDR can be accessed at http://www.genome.clemson.edu/gdr/.

  9. GRAbB : Selective Assembly of Genomic Regions, a New Niche for Genomic Research

    Brankovics, Balázs; Zhang, Hao; van Diepeningen, Anne D; van der Lee, Theo A J; Waalwijk, Cees; de Hoog, G Sybren

    GRAbB (Genomic Region Assembly by Baiting) is a new program that is dedicated to assemble specific genomic regions from NGS data. This approach is especially useful when dealing with multi copy regions, such as mitochondrial genome and the rDNA repeat region, parts of the genome that are often

  10. Clinical research in small genomically stratified patient populations.

    Martin-Liberal, J; Rodon, J

    2017-07-01

    The paradigm of early drug development in cancer is shifting from 'histology-oriented' to 'molecularly oriented' clinical trials. This change can be attributed to the vast amount of tumour biology knowledge generated by large international research initiatives such as The Cancer Genome Atlas (TCGA) and the use of next generation sequencing (NGS) techniques developed in recent years. However, targeting infrequent molecular alterations entails a series of special challenges. The optimal molecular profiling method, the lack of standardised biological thresholds, inter- and intra-tumor heterogeneity, availability of enough tumour material, correct clinical trials design, attrition rate, logistics or costs are only some of the issues that need to be taken into consideration in clinical research in small genomically stratified patient populations. This article examines the most relevant challenges inherent to clinical research in these populations. Moreover, perspectives from the Academia point of view are reviewed as well as initiatives to be taken in forthcoming years. Copyright © 2017 Elsevier Ltd. All rights reserved.

  11. 77 FR 60706 - National Human Genome Research Institute; Notice of Closed Meeting

    2012-10-04

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special.... Nakamura, Ph.D., Scientific Review Officer, Scientific Review Branch, National Human Genome Research...

  12. 76 FR 19780 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-04-08

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... E. Day, PhD, Scientific Review Officer, CIDR, National Human Genome Research Institute, National... . (Catalogue of Federal Domestic Assistance Program No. 93.172, Human Genome Research, National Institutes of...

  13. 76 FR 3917 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-01-21

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Branch, National Human Genome Research Institute, 5635 Fishers Lane, Suite 4076, MSC 9306, Rockville, MD...

  14. 75 FR 56115 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-09-15

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Federal Domestic Assistance Program Nos. 93.172, Human Genome Research, National Institutes of Health, HHS...

  15. 76 FR 3643 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-01-20

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Initial... . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research, National Institutes of...

  16. 78 FR 24223 - National Human Genome Research Institute; Notice of Closed Meeting

    2013-04-24

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Initial...: To review and evaluate grant applications. Place: National Human Genome Research Institute, 3rd floor...

  17. 77 FR 2304 - National Human Genome Research Institute; Notice of Meeting

    2012-01-17

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome....S.C. 281(d)(4)), notice is hereby given that the National Human Genome Research Institute (NHGRI... meeting of the National Advisory Council for Human Genome Research. Background materials on the proposed...

  18. 78 FR 21382 - National Human Genome Research Institute; Notice of Closed Meeting

    2013-04-10

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... applications. Place: National Human Genome Research Institute, Suite 4076, 5635 Fisher's Lane, Bethesda, MD..., National Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane, Suite 4075...

  19. 78 FR 20933 - National Human Genome Research Institute; Notice of Closed Meeting

    2013-04-08

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... review and evaluate grant applications. Place: National Human Genome Research Institute, Room 3055, 5635...

  20. 76 FR 22112 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-04-20

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special....nih.gov . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

  1. 78 FR 31953 - National Human Genome Research Institute; Notice of Closed Meeting

    2013-05-28

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... review and evaluate grant applications. Place: National Human Genome Research Institute, 3rd Floor...

  2. 75 FR 10488 - National Human Genome Research Institute; Notice of Closed Meetings

    2010-03-08

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research...- 4280, [email protected]gov . Name of Committee: National Human Genome Research Institute Special...

  3. 76 FR 35224 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-06-16

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome...). Contact Person: Camilla E. Day, PhD, Scientific Review Officer, CIR, National Human Genome Research..., [email protected] . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

  4. 75 FR 8373 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-02-24

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute [email protected] . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

  5. 77 FR 22332 - National Human Genome Research Institute; Notice of Closed Meeting

    2012-04-13

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special.... Agenda: To review and evaluate grant applications. Place: National Human Genome Research Institute, 5635...

  6. 76 FR 22407 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-04-21

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special.... (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research, National Institutes of...

  7. 77 FR 8268 - National Human Genome Research Institute; Notice of Closed Meetings

    2012-02-14

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... applications. Place: National Human Genome Research Institute, 5635 Fisher's Lane, Room 4076, Rockville, MD..., CIDR, National Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane, Suite...

  8. 75 FR 48977 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-08-12

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome.... Contact Person: Camilla E. Day, PhD, Scientific Review Officer, CIDR, National Human Genome Research..., [email protected] . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

  9. 77 FR 74676 - National Human Genome Research Institute; Notice of Closed Meeting

    2012-12-17

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane, Suite 4075, Bethesda.... 93.172, Human Genome Research, National Institutes of Health, HHS) Dated: December 11, 2012. David...

  10. 75 FR 19984 - National Human Genome Research Institute; Notice of Closed Meetings

    2010-04-16

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., National Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane, Suite 4075... Nakamura, PhD, Scientific Review Officer, Scientific Review Branch, National Human Genome Research...

  11. 75 FR 26762 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-05-12

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Initial... . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research, National Institutes of...

  12. 75 FR 44800 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-07-29

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... for Human Genome Research. The meeting will be closed to the public in accordance with the provisions... Committee: National Advisory Council for Human Genome Research. Date: August 18, 2010. Time: 1 p.m. to 3 p.m...

  13. 75 FR 35821 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-06-23

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Person: Camilla E. Day, PhD, Scientific Review Officer, CIDR, National Human Genome Research [email protected] . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

  14. 76 FR 3642 - National Human Genome Research Institute; Notice of Closed Meetings

    2011-01-20

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research....nih.gov . Name of Committee: National Human Genome Research Institute Special Emphasis Panel eMERGE...

  15. 78 FR 47715 - National Human Genome Research Institute; Notice of Closed Meeting

    2013-08-06

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Person: Camilla E. Day, Ph.D., Scientific Review Officer, CIDR, National Human Genome Research [email protected] . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

  16. 77 FR 31863 - National Human Genome Research Institute; Notice of Closed Meeting

    2012-05-30

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special..., Human Genome Research, National Institutes of Health, HHS) Dated: May 22, 2012. Jennifer S. Spaeth...

  17. 75 FR 52537 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-08-26

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Initial....nih.gov . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

  18. 76 FR 79199 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-12-21

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome.... Contact Person: Camilla E. Day, Ph.D., Scientific Review Officer, CIDR, National Human Genome Research..., [email protected] . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

  19. 75 FR 2148 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-01-14

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Initial....nih.gov . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

  20. 76 FR 66731 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-10-27

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Program Nos. 93.172, Human Genome Research, National Institutes of Health, HHS) Dated: October 21, 2011...

  1. 76 FR 10909 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-02-28

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., National Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane, Suite 4076, MSC..., Human Genome Research, National Institutes of Health, HHS). Dated: February 18, 2011. Jennifer S. Spaeth...

  2. 76 FR 36930 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-06-23

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special..., Human Genome Research, National Institutes of Health, HHS) Dated: June 17, 2011. Jennifer S. Spaeth...

  3. 77 FR 35991 - National Human Genome Research Institute; Notice of Closed Meeting

    2012-06-15

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane, Suite 4075, Bethesda.... 93.172, Human Genome Research, National Institutes of Health, HHS) Dated: June 8, 2012. Jennifer S...

  4. 77 FR 61770 - National Human Genome Research Institute; Notice of Closed Meeting

    2012-10-11

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Assistance Program Nos. 93.172, Human Genome Research, National Institutes of Health, HHS) [[Page 61771...

  5. 76 FR 63932 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-10-14

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Assistance Program Nos. 93.172, Human Genome Research, National Institutes of Health, HHS) Dated: October 7...

  6. 75 FR 8977 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-02-26

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., National Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane, Suite 4076, MSC..., Human Genome Research, National Institutes of Health, HHS) Dated: February 18, 2010. Jennifer Spaeth...

  7. 78 FR 66752 - National Human Genome Research Institute; Amended Notice of Meeting

    2013-11-06

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... National Human Genome Research Institute Special Emphasis Panel, October 15, 2013, 01:00 p.m. to October 15, 2013, 02:30 p.m., National Human Genome Research Institute, 5635 Fishers Lane, Suite 3055, Rockville...

  8. 75 FR 32957 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-06-10

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... funding cycle. (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

  9. 78 FR 14806 - National Human Genome Research Institute; Notice of Closed Meeting

    2013-03-07

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... p.m. Agenda: To review and evaluate grant applications. Place: National Human Genome Research...

  10. 75 FR 53703 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-09-01

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., Scientific Review Branch, National Human Genome Research Institute, National Institutes of Health, 5635.... (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research, National Institutes of...

  11. 75 FR 67380 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-11-02

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Review Branch, National Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane.... (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research, National Institutes of...

  12. Genome-wide analysis of wild-type Epstein-Barr virus genomes derived from healthy individuals of the 1,000 Genomes Project.

    Santpere, Gabriel; Darre, Fleur; Blanco, Soledad; Alcami, Antonio; Villoslada, Pablo; Mar Albà, M; Navarro, Arcadi

    2014-04-01

    Most people in the world (∼90%) are infected by the Epstein-Barr virus (EBV), which establishes itself permanently in B cells. Infection by EBV is related to a number of diseases including infectious mononucleosis, multiple sclerosis, and different types of cancer. So far, only seven complete EBV strains have been described, all of them coming from donors presenting EBV-related diseases. To perform a detailed comparative genomic analysis of EBV including, for the first time, EBV strains derived from healthy individuals, we reconstructed EBV sequences infecting lymphoblastoid cell lines (LCLs) from the 1000 Genomes Project. As strain B95-8 was used to transform B cells to obtain LCLs, it is always present, but a specific deletion in its genome sets it apart from natural EBV strains. After studying hundreds of individuals, we determined the presence of natural EBV in at least 10 of them and obtained a set of variants specific to wild-type EBV. By mapping the natural EBV reads into the EBV reference genome (NC007605), we constructed nearly complete wild-type viral genomes from three individuals. Adding them to the five disease-derived EBV genomic sequences available in the literature, we performed an in-depth comparative genomic analysis. We found that latency genes harbor more nucleotide diversity than lytic genes and that six out of nine latency-related genes, as well as other genes involved in viral attachment and entry into host cells, packaging, and the capsid, present the molecular signature of accelerated protein evolution rates, suggesting rapid host-parasite coevolution.

  13. Fast Charging Electric Vehicle Research & Development Project

    Heny, Michael

    2014-03-31

    The research and development project supported the engineering, design and implementation of on-road Electric Vehicle (“EV”) charging technologies. It included development of potential solutions for DC fast chargers (“DCFC”) capable of converting high voltage AC power to the DC power required by EVs. Additional development evaluated solutions related to the packaging of power electronic components and enclosure design, as well as for the design and evaluation of EV charging stations. Research compared different charging technologies to identify optimum applications in a municipal fleet. This project collected EV usage data and generated a report demonstrating that EVs, when supported by adequate charging infrastructure, are capable of replacing traditional internal combustion vehicles in many municipal applications. The project’s period of performance has demonstrated various methods of incorporating EVs into a municipal environment, and has identified three general categories for EV applications: Short Commute: Defined as EVs performing in limited duration, routine commutes. - Long Commute: Defined as tasks that require EVs to operate in longer daily mileage patterns. - Critical Needs: Defined as the need for EVs to be ready at every moment for indefinite periods. Together, the City of Charlottesville, VA (the “City”) and Aker Wade Power Technologies, LLC (“Aker Wade”) concluded that the EV has a viable position in many municipal fleets but with limited recommendation for use in Critical Needs applications such as Police fleets. The report also documented that, compared to internal combustion vehicles, BEVs have lower vehicle-related greenhouse gas (“GHG”) emissions and contribute to a reduction of air pollution in urban areas. The enhanced integration of EVs in a municipal fleet can result in reduced demand for imported oil and reduced municipal operating costs. The conclusions indicated in the project’s Engineering Report (see Attachment

  14. 78 FR 68856 - National Human Genome Research Institute; Notice of Closed Meeting

    2013-11-15

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Nakamura, Ph.D., Scientific Review Officer, Scientific Review Branch, National Human Genome Research...-402-0838. [[Page 68857

  15. The Human Genome Project and the social contract: a law policy approach.

    Byk, C

    1992-08-01

    For the first time in history, genetics will enable science to completely identify each human as genetically unique. Will this knowledge reinforce the trend for more individual liberties or will it create a 'brave new world'? A law policy approach to the problems raised by the human genome project shows how far our democratic institutions are from being the proper forum to discuss such issues. Because of the fears and anxiety raised in the population, and also because of its wide implications on the everyday life, the human genome analysis more than any other project needs to succeed in setting up such a social assessment.

  16. Genomic research and wide data sharing: views of prospective participants.

    Trinidad, Susan Brown; Fullerton, Stephanie M; Bares, Julie M; Jarvik, Gail P; Larson, Eric B; Burke, Wylie

    2010-08-01

    Sharing study data within the research community generates tension between two important goods: promoting scientific goals and protecting the privacy interests of study participants. This study was designed to explore the perceptions, beliefs, and attitudes of research participants and possible future participants regarding genome-wide association studies and repository-based research. Focus group sessions with (1) current research participants, (2) surrogate decision-makers, and (3) three age-defined cohorts (18-34 years, 35-50, >50). Participants expressed a variety of opinions about the acceptability of wide sharing of genetic and phenotypic information for research purposes through large, publicly accessible data repositories. Most believed that making de-identified study data available to the research community is a social good that should be pursued. Privacy and confidentiality concerns were common, although they would not necessarily preclude participation. Many participants voiced reservations about sharing data with for-profit organizations. Trust is central in participants' views regarding data sharing. Further research is needed to develop governance models that enact the values of stewardship.

  17. Contributing to Tumor Molecular Characterization Projects with a Global Impact | Office of Cancer Genomics

    My name is Nicholas Griner and I am the Scientific Program Manager for the Cancer Genome Characterization Initiative (CGCI) in the Office of Cancer Genomics (OCG). Until recently, I spent most of my scientific career working in a cancer research laboratory. In my postdoctoral training, my research focused on identifying novel pathways that contribute to both prostate and breast cancers and studying proteins within these pathways that may be targeted with cancer drugs.

  18. Astronomy Legacy Project - Pisgah Astronomical Research Institute

    Barker, Thurburn; Castelaz, Michael W.; Rottler, Lee; Cline, J. Donald

    2016-01-01

    Pisgah Astronomical Research Institute (PARI) is a not-for-profit public foundation in North Carolina dedicated to providing hands-on educational and research opportunities for a broad cross-section of users in science, technology, engineering and math (STEM) disciplines. In November 2007 a Workshop on a National Plan for Preserving Astronomical Photographic Data (2009ASPC,410,33O, Osborn, W. & Robbins, L) was held at PARI. The result was the establishment of the Astronomical Photographic Data Archive (APDA) at PARI. In late 2013 PARI began ALP (Astronomy Legacy Project). ALP's purpose is to digitize an extensive set of twentieth century photographic astronomical data housed in APDA. Because of the wide range of types of plates, plate dimensions and emulsions found among the 40+ collections, plate digitization will require a versatile set of scanners and digitizing instruments. Internet crowdfunding was used to assist in the purchase of additional digitization equipment that were described at AstroPlate2014 Plate Preservation Workshop (www.astroplate.cz) held in Prague, CZ, March, 2014. Equipment purchased included an Epson Expression 11000XL scanner and two Nikon D800E cameras. These digital instruments will compliment a STScI GAMMA scanner now located in APDA. GAMMA will be adapted to use an electroluminescence light source and a digital camera with a telecentric lens to achieve high-speed high-resolution scanning. The 1μm precision XY stage of GAMMA will allow very precise positioning of the plate stage. Multiple overlapping CCD images of small sections of each plate, tiles, will be combined using a photo-mosaic process similar to one used in Harvard's DASCH project. Implementation of a software pipeline for the creation of a SQL database containing plate images and metadata will be based upon APPLAUSE as described by Tuvikene at AstroPlate2014 (www.astroplate.cz/programs/).

  19. Facilitating comparative effectiveness research in cancer genomics: evaluating stakeholder perceptions of the engagement process.

    Deverka, Patricia A; Lavallee, Danielle C; Desai, Priyanka J; Armstrong, Joanne; Gorman, Mark; Hole-Curry, Leah; O'Leary, James; Ruffner, B W; Watkins, John; Veenstra, David L; Baker, Laurence H; Unger, Joseph M; Ramsey, Scott D

    2012-07-01

    The Center for Comparative Effectiveness Research in Cancer Genomics completed a 2-year stakeholder-guided process for the prioritization of genomic tests for comparative effectiveness research studies. We sought to evaluate the effectiveness of engagement procedures in achieving project goals and to identify opportunities for future improvements. The evaluation included an online questionnaire, one-on-one telephone interviews and facilitated discussion. Responses to the online questionnaire were tabulated for descriptive purposes, while transcripts from key informant interviews were analyzed using a directed content analysis approach. A total of 11 out of 13 stakeholders completed both the online questionnaire and interview process, while nine participated in the facilitated discussion. Eighty-nine percent of questionnaire items received overall ratings of agree or strongly agree; 11% of responses were rated as neutral with the exception of a single rating of disagreement with an item regarding the clarity of how stakeholder input was incorporated into project decisions. Recommendations for future improvement included developing standard recruitment practices, role descriptions and processes for improved communication with clinical and comparative effectiveness research investigators. Evaluation of the stakeholder engagement process provided constructive feedback for future improvements and should be routinely conducted to ensure maximal effectiveness of stakeholder involvement.

  20. Voting with their mice: personal genome testing and the "participatory turn" in disease research.

    Prainsack, Barbara

    2011-05-01

    While the availability of genome tests on the internet has given rise to heated debates about the likely impact on personal genome information on test-takers, on insurance, and on healthcare systems, in this article I argue that a more tangible effect of personal genomics is that it has started to change how participation in disease research is conceived and enacted. I examine three models of research participation that personal genomics customers are encouraged to engage in. I conclude with an evaluation of the pitfalls and benefits of "crowdsourcing" genetic disease research in the context of personal genomics.

  1. Tools for Monitoring Social Media: A Marketing Research Project

    Veeck, Ann; Hoger, Beth

    2014-01-01

    Knowledge of how to effectively monitor social media is an increasingly valued marketing research skill. This study tests an approach for adding social media content to an undergraduate marketing research class team project. The revised project maintains the expected objectives and parameters of a traditional research project, while integrating…

  2. Spaces of genomics : exploring the innovation journey of genomics in research on common disease

    Bitsch, L.

    2013-01-01

    Genomics was introduced with big promises and expectations of its future contribution to our society. Medical genomics was introduced as that which would lay the foundation for a revolution in our management of common diseases. Genomics would lead the way towards a future of personalised medicine.

  3. Data Mining Approaches for Genomic Biomarker Development: Applications Using Drug Screening Data from the Cancer Genome Project and the Cancer Cell Line Encyclopedia.

    David G Covell

    Full Text Available Developing reliable biomarkers of tumor cell drug sensitivity and resistance can guide hypothesis-driven basic science research and influence pre-therapy clinical decisions. A popular strategy for developing biomarkers uses characterizations of human tumor samples against a range of cancer drug responses that correlate with genomic change; developed largely from the efforts of the Cancer Cell Line Encyclopedia (CCLE and Sanger Cancer Genome Project (CGP. The purpose of this study is to provide an independent analysis of this data that aims to vet existing and add novel perspectives to biomarker discoveries and applications. Existing and alternative data mining and statistical methods will be used to a evaluate drug responses of compounds with similar mechanism of action (MOA, b examine measures of gene expression (GE, copy number (CN and mutation status (MUT biomarkers, combined with gene set enrichment analysis (GSEA, for hypothesizing biological processes important for drug response, c conduct global comparisons of GE, CN and MUT as biomarkers across all drugs screened in the CGP dataset, and d assess the positive predictive power of CGP-derived GE biomarkers as predictors of drug response in CCLE tumor cells. The perspectives derived from individual and global examinations of GEs, MUTs and CNs confirm existing and reveal unique and shared roles for these biomarkers in tumor cell drug sensitivity and resistance. Applications of CGP-derived genomic biomarkers to predict the drug response of CCLE tumor cells finds a highly significant ROC, with a positive predictive power of 0.78. The results of this study expand the available data mining and analysis methods for genomic biomarker development and provide additional support for using biomarkers to guide hypothesis-driven basic science research and pre-therapy clinical decisions.

  4. What do medical students understand by research and research skills? Identifying research opportunities within undergraduate projects.

    Murdoch-Eaton, Deborah; Drewery, Sarah; Elton, Sarah; Emmerson, Catherine; Marshall, Michelle; Smith, John A; Stark, Patsy; Whittle, Sue

    2010-01-01

    Undergraduate research exposure leads to increased recruitment into academic medicine, enhanced employability and improved postgraduate research productivity. Uptake of undergraduate research opportunities is reported to be disappointing, and little is known about how students perceive research. To investigate opportunities for undergraduate participation in research, recognition of such opportunities, and associated skills development. A mixed method approach, incorporating student focus and study groups, and documentary analysis at five UK medical schools. Undergraduates recognised the benefits of acquiring research skills, but identified practical difficulties and disadvantages of participating. Analysis of 905 projects in four main research skill areas - (1) research methods; (2) information gathering; (3) critical analysis and review; (4) data processing - indicated 52% of projects provided opportunities for students to develop one or more skills, only 13% offered development in all areas. In 17%, project descriptions provided insufficient information to determine opportunities. Supplied with information from a representative sample of projects (n = 80), there was little consensus in identifying skills among students or between students and researchers. Consensus improved dramatically following guidance on how to identify skills. Undergraduates recognise the benefits of research experience but need a realistic understanding of the research process. Opportunities for research skill development may not be obvious. Undergraduates require training to recognise the skills required for research and enhanced transparency in potential project outcomes.

  5. The Human Genome Project and Eugenics: Identifying the Impact on Individuals with Mental Retardation.

    Kuna, Jason

    2001-01-01

    This article explores the impact of the mapping work of the Human Genome Project on individuals with mental retardation and the negative effects of genetic testing. The potential to identify disabilities and the concept of eugenics are discussed, along with ethical issues surrounding potential genetic therapies. (Contains references.) (CR)

  6. Reflections on Mental Retardation and Eugenics, Old and New: Mensa and the Human Genome Project.

    Smith, J. David

    1994-01-01

    This article addresses the moral and ethical issues of mental retardation and a continuing legacy of belief in eugenics. It discusses the involuntary sterilization of Carrie Buck in 1927, support for legalized killing of subnormal infants by 47% of respondents to a Mensa survey, and implications of the Human Genome Project for the field of mental…

  7. Democratizing Human Genome Project Information: A Model Program for Education, Information and Debate in Public Libraries.

    Pollack, Miriam

    The "Mapping the Human Genome" project demonstrated that librarians can help whomever they serve in accessing information resources in the areas of biological and health information, whether it is the scientists who are developing the information or a member of the public who is using the information. Public libraries can guide library…

  8. From Mendel to the Human Genome Project: The Implications for Nurse Education.

    Burton, Hilary; Stewart, Alison

    2003-01-01

    The Human Genome Project is brining new opportunities to predict and prevent diseases. Although pediatric nurses are the closest to these developments, most nurses will encounter genetic aspects of practice and must understand the basic science and its ethical, legal, and social dimensions. (Includes commentary by Peter Birchenall.) (SK)

  9. Integrative Genomics Viewer (IGV) | Informatics Technology for Cancer Research (ITCR)

    The Integrative Genomics Viewer (IGV) is a high-performance visualization tool for interactive exploration of large, integrated genomic datasets. It supports a wide variety of data types, including array-based and next-generation sequence data, and genomic annotations.

  10. Expanding Genomic Biomonitoring to Regional & National Scale Projects

    This presentation provides a summary of ORD/NERL/SED research efforts applying DNA metabarcoding to questions related to biomonitoring and invasive species detection, along with development of sensitive indicators of nutrient condition.

  11. THE HUMAN GENOME PROJECT IN POINT OF ETHICAL

    Aysel DEMIR

    2013-01-01

    In this research, it is evaluated through concrete examples the results of HUGO and potential ethical problems that it may cause. It is explained deeply that when it is realize that carried potential risks of HUGO, how will be effected people’s social rights, freedoms and where will start and finish their freedom because of HUGO’s results. The research discusses the problem of regarding people as instruments and argues that genetic interventions have the potential to interfere with people's p...

  12. 76 FR 66076 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-10-25

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Call). Contact Person: Camilla E. Day, PhD, Scientific Review Officer, CIDR, National Human Genome... Assistance Program Nos. 93.172, Human Genome Research, National Institutes of Health, HHS) Dated: October 19...

  13. 77 FR 64816 - National Human Genome Research Institute; Notice of Meeting

    2012-10-23

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., National Human Genome Research Institute. The meeting will be open to the public as indicated below, with... invasion of personal privacy. Name of Committee: Board of Scientific Counselors, National Human Genome...

  14. 76 FR 65204 - National Human Genome Research Institute; Notice of Meeting

    2011-10-20

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., National Human Genome Research Institute. The meeting will be open to the public as indicated below, with... invasion of personal privacy. Name of Committee: Board of Scientific Counselors, National Human Genome...

  15. 78 FR 61851 - National Human Genome Research Institute; Notice of Closed Meeting

    2013-10-04

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... a.m. to 4:00 p.m. Agenda: To review and evaluate grant applications. Place: National Human Genome...

  16. 75 FR 80509 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-12-22

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Call). Contact Person: Camilla E. Day, PhD, Scientific Review Officer, CIDR, National Human Genome... Assistance Program Nos. 93.172, Human Genome Research, National Institutes of Health, HHS) Dated: December 16...

  17. 76 FR 28056 - National Human Genome Research Institute; Notice of Closed Meetings

    2011-05-13

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research... D. Nakamura, PhD, Scientific Review Officer, Office of Scientific Review, National Human Genome...

  18. 75 FR 52538 - National Human Genome Research Institute; Notice of Closed Meeting

    2010-08-26

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Person: Ken D. Nakamura, PhD, Scientific Review Officer, Scientific Review Branch, National Human Genome...

  19. 76 FR 35223 - National Human Genome Research Institute; Notice of Closed Meeting

    2011-06-16

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Person: Rudy O. Pozzatti, PhD, Scientific Review Officer, Scientific Review Branch, National Human Genome...

  20. 75 FR 60467 - National Human Genome Research Institute; Notice of Meeting

    2010-09-30

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., National Human Genome Research Institute. The meeting will be open to the public as indicated below, with... invasion of personal privacy. Name of Committee: Board of Scientific Counselors, National Human Genome...

  1. Isotope-based medical research in the post genome era: Gene-orchestrated life functions in medicine seen and affected by isotopes. Workshop report

    Feinendegen, L.E.

    1997-01-01

    The US Department of Energy (DOE) and the National Institutes of Health (NIH) conducted a workshop on Isotope-Based Medical Research in the Post Genome Era at NIH, Bethesda, Maryland, November 12--14, 1997. The workshop aimed at identifying the role of stable and radioisotopes for advanced diagnosis and therapy of a wide range of illnesses using the new information that comes from the human genome program. In this sense, the agenda addressed the challenge of functional genomics in humans. The workshop addressed: functional genomics in clinical medicine; new diagnostic potentials; new therapy potentials; challenge to tracer- and effector-pharmaceutical chemistry; and project plans for joint ventures

  2. Isotope-based medical research in the post genome era: Gene-orchestrated life functions in medicine seen and affected by isotopes. Workshop report

    Feinendegen, L.E.

    1997-12-31

    The US Department of Energy (DOE) and the National Institutes of Health (NIH) conducted a workshop on Isotope-Based Medical Research in the Post Genome Era at NIH, Bethesda, Maryland, November 12--14, 1997. The workshop aimed at identifying the role of stable and radioisotopes for advanced diagnosis and therapy of a wide range of illnesses using the new information that comes from the human genome program. In this sense, the agenda addressed the challenge of functional genomics in humans. The workshop addressed: functional genomics in clinical medicine; new diagnostic potentials; new therapy potentials; challenge to tracer- and effector-pharmaceutical chemistry; and project plans for joint ventures.

  3. Genomics:GTL Bioenergy Research Centers White Paper

    Mansfield, Betty Kay [ORNL; Alton, Anita Jean [ORNL; Andrews, Shirley H [ORNL; Bownas, Jennifer Lynn [ORNL; Casey, Denise [ORNL; Martin, Sheryl A [ORNL; Mills, Marissa [ORNL; Nylander, Kim [ORNL; Wyrick, Judy M [ORNL; Drell, Dr. Daniel [Office of Science, Department of Energy; Weatherwax, Sharlene [U.S. Department of Energy; Carruthers, Julie [U.S. Department of Energy

    2006-08-01

    In his Advanced Energy Initiative announced in January 2006, President George W. Bush committed the nation to new efforts to develop alternative sources of energy to replace imported oil and fossil fuels. Developing cost-effective and energy-efficient methods of producing renewable alternative fuels such as cellulosic ethanol from biomass and solar-derived biofuels will require transformational breakthroughs in science and technology. Incremental improvements in current bioenergy production methods will not suffice. The Genomics:GTL Bioenergy Research Centers will be dedicated to fundamental research on microbe and plant systems with the goal of developing knowledge that will advance biotechnology-based strategies for biofuels production. The aim is to spur substantial progress toward cost-effective production of biologically based renewable energy sources. This document describes the rationale for the establishment of the centers and their objectives in light of the U.S. Department of Energy's mission and goals. Developing energy-efficient and cost-effective methods of producing alternative fuels such as cellulosic ethanol from biomass will require transformational breakthroughs in science and technology. Incremental improvements in current bioenergy-production methods will not suffice. The focus on microbes (for cellular mechanisms) and plants (for source biomass) fundamentally exploits capabilities well known to exist in the microbial world. Thus 'proof of concept' is not required, but considerable basic research into these capabilities remains an urgent priority. Several developments have converged in recent years to suggest that systems biology research into microbes and plants promises solutions that will overcome critical roadblocks on the path to cost-effective, large-scale production of cellulosic ethanol and other renewable energy from biomass. The ability to rapidly sequence the DNA of any organism is a critical part of these new

  4. Athlome Project Consortium: a concerted effort to discover genomic and other "omic" markers of athletic performance.

    Pitsiladis, Yannis P; Tanaka, Masashi; Eynon, Nir; Bouchard, Claude; North, Kathryn N; Williams, Alun G; Collins, Malcolm; Moran, Colin N; Britton, Steven L; Fuku, Noriyuki; Ashley, Euan A; Klissouras, Vassilis; Lucia, Alejandro; Ahmetov, Ildus I; de Geus, Eco; Alsayrafi, Mohammed

    2016-03-01

    Despite numerous attempts to discover genetic variants associated with elite athletic performance, injury predisposition, and elite/world-class athletic status, there has been limited progress to date. Past reliance on candidate gene studies predominantly focusing on genotyping a limited number of single nucleotide polymorphisms or the insertion/deletion variants in small, often heterogeneous cohorts (i.e., made up of athletes of quite different sport specialties) have not generated the kind of results that could offer solid opportunities to bridge the gap between basic research in exercise sciences and deliverables in biomedicine. A retrospective view of genetic association studies with complex disease traits indicates that transition to hypothesis-free genome-wide approaches will be more fruitful. In studies of complex disease, it is well recognized that the magnitude of genetic association is often smaller than initially anticipated, and, as such, large sample sizes are required to identify the gene effects robustly. A symposium was held in Athens and on the Greek island of Santorini from 14-17 May 2015 to review the main findings in exercise genetics and genomics and to explore promising trends and possibilities. The symposium also offered a forum for the development of a position stand (the Santorini Declaration). Among the participants, many were involved in ongoing collaborative studies (e.g., ELITE, GAMES, Gene SMART, GENESIS, and POWERGENE). A consensus emerged among participants that it would be advantageous to bring together all current studies and those recently launched into one new large collaborative initiative, which was subsequently named the Athlome Project Consortium. Copyright © 2016 the American Physiological Society.

  5. The Genome of the Netherlands : design, and project goals

    Boomsma, Dorret I.; Wijmenga, Cisca; Slagboom, Eline P.; Swertz, Morris A.; Karssen, Lennart C.; Abdellaoui, Abdel; Ye, Kai; Guryev, Victor; Vermaat, Martijn; van Dijk, Freerk; Francioli, Laurent C.; Hottenga, Jouke Jan; Laros, Jeroen F. J.; Li, Qibin; Li, Yingrui; Cao, Hongzhi; Chen, Ruoyan; Du, Yuanping; Li, Ning; Cao, Sujie; van Setten, Jessica; Menelaou, Androniki; Pulit, Sara L.; Hehir-Kwa, Jayne Y.; Beekman, Marian; Elbers, Clara C.; Byelas, Heorhiy; de Craen, Anton J. M.; Deelen, Patrick; Dijkstra, Martijn; den Dunnen, Johan T.; de Knijff, Peter; Houwing-Duistermaat, Jeanine; Koval, Vyacheslav; Estrada, Karol; Hofman, Albert; Kanterakis, Alexandros; van Enckevort, David; Mai, Hailiang; Kattenberg, Mathijs; van Leeuwen, Elisabeth M.; Neerincx, Pieter B. T.; Oostra, Ben; Rivadeneira, Fernanodo; Suchiman, Eka H. D.; Uitterlinden, Andre G.; Willemsen, Gonneke; Wolffenbuttel, Bruce H.; Wang, Jun; de Bakker, Paul I. W.; van Ommen, Gert-Jan; van Duijn, Cornelia M.

    Within the Netherlands a national network of biobanks has been established (Biobanking and Biomolecular Research Infrastructure-Netherlands (BBMRI-NL)) as a national node of the European BBMRI. One of the aims of BBMRI-NL is to enrich biobanks with different types of molecular and phenotype data.

  6. Comparing genetic variants detected in the 1000 genomes project ...

    2015-12-11

    Dec 11, 2015 ... three key benefits: better diagnoses and earlier interven- tions, more ... research field in human genetics and personalized medicine. Based on the ... to amino acid changes and were found associated with breast .... were common between two datasets or unique SNPs if they were found only in one dataset.

  7. DNA Microarrays: a Powerful Genomic Tool for Biomedical and Clinical Research

    Trevino, Victor; Falciani, Francesco; Barrera-Saldaña, Hugo A

    2007-01-01

    Among the many benefits of the Human Genome Project are new and powerful tools such as the genome-wide hybridization devices referred to as microarrays. Initially designed to measure gene transcriptional levels, microarray technologies are now used for comparing other genome features among individuals and their tissues and cells. Results provide valuable information on disease subcategories, disease prognosis, and treatment outcome. Likewise, they reveal differences in genetic makeup, regulat...

  8. Secure web book to store structural genomics research data.

    Manjasetty, Babu A; Höppner, Klaus; Mueller, Uwe; Heinemann, Udo

    2003-01-01

    Recently established collaborative structural genomics programs aim at significantly accelerating the crystal structure analysis of proteins. These large-scale projects require efficient data management systems to ensure seamless collaboration between different groups of scientists working towards the same goal. Within the Berlin-based Protein Structure Factory, the synchrotron X-ray data collection and the subsequent crystal structure analysis tasks are located at BESSY, a third-generation synchrotron source. To organize file-based communication and data transfer at the BESSY site of the Protein Structure Factory, we have developed the web-based BCLIMS, the BESSY Crystallography Laboratory Information Management System. BCLIMS is a relational data management system which is powered by MySQL as the database engine and Apache HTTP as the web server. The database interface routines are written in Python programing language. The software is freely available to academic users. Here we describe the storage, retrieval and manipulation of laboratory information, mainly pertaining to the synchrotron X-ray diffraction experiments and the subsequent protein structure analysis, using BCLIMS.

  9. Getting the Word Out on the Human Genome Project: A Course for Physicians

    Sara L. Tobin

    2004-09-29

    Our project, ''Getting the Word Out on the Human Genome Project: A Course for Physicians,'' presented educational goals to convey the power and promise of the Human Genome Program to a variety of professional, educational, and public audiences. Our initial goal was to provide practicing physicians with a comprehensive multimedia tool to update their skills in the genomic era. We therefore created the multimedia courseware, ''The New Genetics: Courseware for Physicians. Molecular Concepts, Applications, and Ramifications.'' However, as the project moved forward, several unanticipated audiences found the courseware to be useful for instruction and for self-education, so an additional edition of the courseware ''The New Genetics: Medicine and the Human Genome. Molecular Concepts, Applications, and Ramifications'' was published simultaneously with the physician version. At the time that both versions of the courseware were being completed, Stanford's Office of Technology Licensing opted not to commercialize the courseware and offered a license-back agreement if the authors founded a commercial business. The authors thus became closely involved in marketing and sales, and several thousand copies of the courseware have been sold. Surprisingly, the non-physician version has turned out to be more in demand, and this has led us in several new directions, most of which involve undergraduate education. These are discussed in detail in the Report.

  10. 30 CFR 402.10 - Research-project applications.

    2010-07-01

    ... project title, project objectives, background information, research tasks, methodology to conduct the... 30 Mineral Resources 2 2010-07-01 2010-07-01 false Research-project applications. 402.10 Section... PROGRAM AND THE WATER-RESOURCES TECHNOLOGY DEVELOPMENT PROGRAM Application, Evaluation, and Management...

  11. Attitudes of stakeholders in psychiatry towards the inclusion of children in genomic research

    Sundby, Anna; Boolsen, Merete Watt; Burgdorf, Kristoffer Sølvsten

    2018-01-01

    BACKGROUND: Genomic sequencing of children in research raises complex ethical issues. This study aims to gain more knowledge on the attitudes towards the inclusion of children as research subjects in genomic research and towards the disclosure of pertinent and incidental findings to the parents a...

  12. Recent advances in Echinococcus genomics and stem cell research.

    Koziol, U; Brehm, K

    2015-10-30

    Alveolar and cystic echinococcosis, caused by the metacestode larval stages of the tapeworms Echinococcus multilocularis and Echinococcus granulosus, respectively, are life-threatening diseases and very difficult to treat. The introduction of benzimidazole-based chemotherapy, which targets parasite β-tubulin, has significantly improved the life-span and prognosis of echinococcosis patients. However, benzimidazoles show only parasitostatic activity, are associated with serious adverse side effects and have to be administered for very long time periods, underlining the need for new drugs. Very recently, the nuclear genomes of E. multilocularis and E. granulosus have been characterised, revealing a plethora of data for gaining a deeper understanding of host-parasite interaction, parasite development and parasite evolution. Combined with extensive transcriptome analyses of Echinococcus life cycle stages these investigations also yielded novel clues for targeted drug design. Recent years also witnessed significant advancements in the molecular and cellular characterisation of the Echinococcus 'germinative cell' population, which forms a unique stem cell system that differs from stem cells of other organisms in the expression of several genes associated with the maintenance of pluripotency. As the only parasite cell type capable of undergoing mitosis, the germinative cells are central to all developmental transitions of Echinococcus within the host and to parasite expansion via asexual proliferation. In the present article, we will briefly introduce and discuss recent advances in Echinococcus genomics and stem cell research in the context of drug design and development. Interestingly, it turns out that benzimidazoles seem to have very limited effects on Echinococcus germinative cells, which could explain the high recurrence rates observed after chemotherapeutic treatment of echinococcosis patients. This clearly indicates that future efforts into the development of

  13. Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics.

    Dong, Zirui; Wang, Huilin; Chen, Haixiao; Jiang, Hui; Yuan, Jianying; Yang, Zhenjun; Wang, Wen-Jing; Xu, Fengping; Guo, Xiaosen; Cao, Ye; Zhu, Zhenzhen; Geng, Chunyu; Cheung, Wan Chee; Kwok, Yvonne K; Yang, Huanming; Leung, Tak Yeung; Morton, Cynthia C; Cheung, Sau Wai; Choy, Kwong Wai

    2017-11-02

    PurposeRecent studies demonstrate that whole-genome sequencing enables detection of cryptic rearrangements in apparently balanced chromosomal rearrangements (also known as balanced chromosomal abnormalities, BCAs) previously identified by conventional cytogenetic methods. We aimed to assess our analytical tool for detecting BCAs in the 1000 Genomes Project without knowing which bands were affected.MethodsThe 1000 Genomes Project provides an unprecedented integrated map of structural variants in phenotypically normal subjects, but there is no information on potential inclusion of subjects with apparent BCAs akin to those traditionally detected in diagnostic cytogenetics laboratories. We applied our analytical tool to 1,166 genomes from the 1000 Genomes Project with sufficient physical coverage (8.25-fold).ResultsWith this approach, we detected four reciprocal balanced translocations and four inversions, ranging in size from 57.9 kb to 13.3 Mb, all of which were confirmed by cytogenetic methods and polymerase chain reaction studies. One of these DNAs has a subtle translocation that is not readily identified by chromosome analysis because of the similarity of the banding patterns and size of exchanged segments, and another results in disruption of all transcripts of an OMIM gene.ConclusionOur study demonstrates the extension of utilizing low-pass whole-genome sequencing for unbiased detection of BCAs including translocations and inversions previously unknown in the 1000 Genomes Project.GENETICS in MEDICINE advance online publication, 2 November 2017; doi:10.1038/gim.2017.170.

  14. ENSAR, a Nuclear Science Project for European Research Area

    Turzó, Ketel; Lewitowicz, Marek; Harakeh, Muhsin N.

    2015-01-01

    During the period from September 2010 to December 2014, the European project European Nuclear Science and Applications Research (ENSAR) coordinated research activities of the Nuclear Physics community performing research in three major subfields: Nuclear Structure, Nuclear Astrophysics, and Nuclear

  15. Methodology for evaluation of railroad technology research projects

    1981-04-01

    This Project memorandum presents a methodology for evaluating railroad research projects. The methodology includes consideration of industry and societal benefits, with special attention given to technical risks, implementation considerations, and po...

  16. A Comparative Analysis of Indigenous Research Guidelines to Inform Genomic Research in Indigenous Communities

    Jay Maddock

    2012-05-01

    Full Text Available BACKGROUND: Genetic research has potential benefits for improving health, such as identifying molecular characteristics of a disease, understanding disease prevalence and treatment, and developing treatments tailored to patients based on individual genetic characteristics of their disease. Indigenous people are often targeted for genetic research because genes are easier to study in communities that practice endogamy. Therefore, populations perceived to be more homogenous, such as Indigenous peoples, are ideal for genetic studies. While Indigenous communities remain the focal point of many genomic studies, some result in harm and unethical practice. Unfortunately, the harms of poorly formulated and unethical research involving Indigenous people have created barriers to participation that prevent critical and lifesaving research. These harms have led a number of Indigenous communities to develop guidelines for engaging with researchers to assist in safely bridging the gap between genetic research and Indigenous peoples.SPECIFIC AIMS: The specific aims of this study were: (1 to conduct an international review and comparison of Indigenous research guidelines that highlight topics regarding genetics and use of biological samples and identify commonalities and differences among ethical principles of concern to Indigenous peoples; and (2 develop policy recommendations for Indigenous populations interested in creating formal policies around the use of genetic information and protection of biological samples using data from specific aim 1.METHODS: A comparative analysis was performed to identify best research practices and recommendations for Indigenous groups from four countries: Canada, New Zealand, Australia, and the United States. The analysis examined commonalities in political relationships, which support self-determination among these Indigenous communities to control their data. Current international Indigenous guidelines were analyzed to review

  17. Earth BioGenome Project: Sequencing life for the future of life.

    Lewin, Harris A; Robinson, Gene E; Kress, W John; Baker, William J; Coddington, Jonathan; Crandall, Keith A; Durbin, Richard; Edwards, Scott V; Forest, Félix; Gilbert, M Thomas P; Goldstein, Melissa M; Grigoriev, Igor V; Hackett, Kevin J; Haussler, David; Jarvis, Erich D; Johnson, Warren E; Patrinos, Aristides; Richards, Stephen; Castilla-Rubio, Juan Carlos; van Sluys, Marie-Anne; Soltis, Pamela S; Xu, Xun; Yang, Huanming; Zhang, Guojie

    2018-04-24

    Increasing our understanding of Earth's biodiversity and responsibly stewarding its resources are among the most crucial scientific and social challenges of the new millennium. These challenges require fundamental new knowledge of the organization, evolution, functions, and interactions among millions of the planet's organisms. Herein, we present a perspective on the Earth BioGenome Project (EBP), a moonshot for biology that aims to sequence, catalog, and characterize the genomes of all of Earth's eukaryotic biodiversity over a period of 10 years. The outcomes of the EBP will inform a broad range of major issues facing humanity, such as the impact of climate change on biodiversity, the conservation of endangered species and ecosystems, and the preservation and enhancement of ecosystem services. We describe hurdles that the project faces, including data-sharing policies that ensure a permanent, freely available resource for future scientific discovery while respecting access and benefit sharing guidelines of the Nagoya Protocol. We also describe scientific and organizational challenges in executing such an ambitious project, and the structure proposed to achieve the project's goals. The far-reaching potential benefits of creating an open digital repository of genomic information for life on Earth can be realized only by a coordinated international effort.

  18. The post-Human Genome Project mindset: race, reliability, and health care.

    Kimmelman, J

    2006-11-01

    The following essay reports on the first session of a 2-day workshop on genetic diversity and science communication, organized by the Institute of Genetics. I argue that the four talks in this session reflected two different facets of a 'post-Human Genome Project (HGP)' view of human genetics. The first is characterized by an increasing interest in genetic differences. Two speakers - Troy Duster and Jasber Singh - expressed skepticism about one aspect of this trend: an emphasis on race in medicine and genetics. The other two speakers - Kenneth Weiss and Gustavo Turecki - spoke to a second facet of the post-HGP view: a recognition of the difficulty in translating genetic discovery into medical or public health applications. Though both sets of talks were highly critical of current trends in genetic research, they pulled in opposite directions: one warned about the role of genetics in stabilizing racial categories, while the other lamented the failure of any genetic claims or categories to stabilize at all. I argue that the use of racial categories in medicine seems likely to encounter scientific, medical, and social challenges.

  19. ELSI Bibliography: Ethical, legal and social implications of the Human Genome Project. 1994 Supplement

    Yesley, M.S.; Ossorio, P.N. [comps.

    1994-09-01

    This report updates and expands the second edition of the ELSI Bibliography, published in 1993. The Bibliography and Supplement provides a comprehensive resource for identifying publications on the major topics related to the ethical, legal and social issues (ELSI) of the Human Genome Project. The Bibliography and Supplement are extracted from a database compiled at Los Alamos National Laboratory with the support of the Office of Energy Research, US Department of Energy. The second edition of the ELSI Bibliography was dated May 1993 but included publications added to the database until fall 1993. This Supplement reflects approximately 1,000 entries added to the database during the past year, bringing the total to approximately 7,000 entries. More than half of the new entries were published in the last year, and the remainder are earlier publications not previously included in the database. Most of the new entries were published in the academic and professional literature. The remainder are press reports from newspapers of record and scientific journals. The topical listing of the second edition has been followed in the Supplement, with a few changes. The topics of Cystic Fibrosis, Huntington`s Disease, and Sickle Cell Anemia have been combined in a single topic, Disorders. Also, all the entries published in the past year are included in a new topic, Publications: September 1993--September 1994, which provides a comprehensive view of recent reporting and commentary on the science and ELSI of genetics.

  20. Annual review of research projects 1980

    Keam, D.W.

    1981-11-01

    The Australian Radiation Laboratory is a national centre concerned with the public and occupational health aspects of the use of both ionising and non-ionising radiation. Thirty two projects which were in progress during 1980 are described

  1. Battery Electric Vehicles: characteristics and research projects

    Besselink, I.J.M.

    2010-01-01

    This presentation discusses briefly the history of the electric car and its main characteristics. Two projects introduced: the battery electric VW Lupo EL and URE05e electric Formula Student racecar. Presentation slides.

  2. Technology Base Research Project for electrochemical energy storage

    Kinoshita, K.

    1985-06-01

    The DOE Electrochemical Energy Storage Program is divided into two projects: (1) the exploratory technology development and testing (ETD) project and (2) the technology base research (TBR) project. The role of the TBR Project is to perform supporting research for the advanced battery systems under development by the ETD Project, and to evaluate new systems with potentially superior performance, durability and/or cost characteristics. The specific goal of the TBR Project is to identify the most promising electrochemical technologies and transfer them to industry and/or the ETD Project for further development and scale-up. This report summarizes the research, financial, and management activities relevant to the TBR Project in CY 1984. General problem areas addressed by the project include identification of new electrochemical couples for advanced batteries, determination of technical feasibility of the new couples, improvements in battery components and materials, establishment of engineering principles applicable to electrochemical energy storage and conversion, and the assessment of fuel-cell technology for transportation applications. Major emphasis is given to applied research which will lead to superior performance and lower life-cycle costs. The TBR Project is divided into three major project elements: exploratory research, applied science research, and air systems research.

  3. Sequence Analysis and Characterization of Active Human Alu Subfamilies Based on the 1000 Genomes Pilot Project.

    Konkel, Miriam K; Walker, Jerilyn A; Hotard, Ashley B; Ranck, Megan C; Fontenot, Catherine C; Storer, Jessica; Stewart, Chip; Marth, Gabor T; Batzer, Mark A

    2015-08-29

    The goal of the 1000 Genomes Consortium is to characterize human genome structural variation (SV), including forms of copy number variations such as deletions, duplications, and insertions. Mobile element insertions, particularly Alu elements, are major contributors to genomic SV among humans. During the pilot phase of the project we experimentally validated 645 (611 intergenic and 34 exon targeted) polymorphic "young" Alu insertion events, absent from the human reference genome. Here, we report high resolution sequencing of 343 (322 unique) recent Alu insertion events, along with their respective target site duplications, precise genomic breakpoint coordinates, subfamily assignment, percent divergence, and estimated A-rich tail lengths. All the sequenced Alu loci were derived from the AluY lineage with no evidence of retrotransposition activity involving older Alu families (e.g., AluJ and AluS). AluYa5 is currently the most active Alu subfamily in the human lineage, followed by AluYb8, and many others including three newly identified subfamilies we have termed AluYb7a3, AluYb8b1, and AluYa4a1. This report provides the structural details of 322 unique Alu variants from individual human genomes collectively adding about 100 kb of genomic variation. Many Alu subfamilies are currently active in human populations, including a surprising level of AluY retrotransposition. Human Alu subfamilies exhibit continuous evolution with potential drivers sprouting new Alu lineages. © The Author(s) 2015. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  4. Perspectives from the Avian Phylogenomics Project: Questions that Can Be Answered with Sequencing All Genomes of a Vertebrate Class.

    Jarvis, Erich D

    2016-01-01

    The rapid pace of advances in genome technology, with concomitant reductions in cost, makes it feasible that one day in our lifetime we will have available extant genomes of entire classes of species, including vertebrates. I recently helped cocoordinate the large-scale Avian Phylogenomics Project, which collected and sequenced genomes of 48 bird species representing most currently classified orders to address a range of questions in phylogenomics and comparative genomics. The consortium was able to answer questions not previously possible with just a few genomes. This success spurred on the creation of a project to sequence the genomes of at least one individual of all extant ∼10,500 bird species. The initiation of this project has led us to consider what questions now impossible to answer could be answered with all genomes, and could drive new questions now unimaginable. These include the generation of a highly resolved family tree of extant species, genome-wide association studies across species to identify genetic substrates of many complex traits, redefinition of species and the species concept, reconstruction of the genomes of common ancestors, and generation of new computational tools to address these questions. Here I present visions for the future by posing and answering questions regarding what scientists could potentially do with available genomes of an entire vertebrate class.

  5. Using Microbial Genome Annotation as a Foundation for Collaborative Student Research

    Reed, Kelynne E.; Richardson, John M.

    2013-01-01

    We used the Integrated Microbial Genomes Annotation Collaboration Toolkit as a framework to incorporate microbial genomics research into a microbiology and biochemistry course in a way that promoted student learning of bioinformatics and research skills and emphasized teamwork and collaboration as evidenced through multiple assessment mechanisms.…

  6. The potential of metabolomics for Leishmania research in the post-genomics era

    Scheltema, Richard A.; Decuypere, Saskia; T'Kindt, Ruben; Dujardin, Jean-Claude; Coombs, Graham H.; Breitling, Rainer; T’Kindt, Ruben

    The post-genomics era has provided researchers with access to a new generation of tools for the global characterization and understanding of pathogen diversity. This review provides a critical summary of published Leishmania post-genomic research efforts to date, and discusses the potential impact

  7. 77 FR 67385 - National Human Genome Research Institute; Amended Notice of Meeting

    2012-11-09

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome Research Institute; Amended Notice of Meeting Notice is hereby given of a change in the meeting of the National Human Genome Research Institute Special Emphasis Panel, October 29, 2012, 8:00 a.m. to October 30...

  8. 78 FR 65342 - National Human Genome Research Institute; Amended Notice of Meeting

    2013-10-31

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome Research Institute; Amended Notice of Meeting Notice is hereby given of a change in the meeting of the National Human Genome Research Institute Special Emphasis Panel, October 17, 2013, 08:00 a.m. to October 17...

  9. 76 FR 65738 - National Human Genome Research Institute; Amended Notice of Meeting

    2011-10-24

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome Research Institute; Amended Notice of Meeting Notice is hereby given of a change in the meeting of the National Human Genome Research Institute Special Emphasis Panel, November 29, 2011, 8 a.m. to November 29...

  10. 77 FR 55853 - National Human Genome Research Institute; Amended Notice of Meeting

    2012-09-11

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome Research Institute; Amended Notice of Meeting Notice is hereby given of a change in the meeting of the National Advisory Council for Human Genome Research, September 10, 2012, 8:30 a.m. to September 11, 2012, 5...

  11. 77 FR 27471 - National Human Genome Research Institute Amended Notice of Meeting

    2012-05-10

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome Research Institute Amended Notice of Meeting Notice is hereby given of a change in the meeting of the National Advisory Council for Human Genome Research, May 21, 2012, 8:30 a.m. to May 22, 2012, 5:00 p.m...

  12. 76 FR 71581 - National Human Genome Research Institute; Amended Notice of Meeting

    2011-11-18

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome Research Institute; Amended Notice of Meeting Notice is hereby given of a change in the meeting of the National Human Genome Research Institute Special Emphasis Panel, November 22, 2011, 12 p.m. to November 22...

  13. "Emancipatory Disability Research": Project or Process?

    Barnes, Colin

    2002-01-01

    This article provides an overview of the core principles and implications of emancipatory disability research. It suggests the emancipatory research paradigm has begun to transform the material and social relations of research production and concludes by suggesting that emancipatory disability should be perceived as a process rather than a…

  14. Linguistic analysis of project ownership for undergraduate research experiences.

    Hanauer, D I; Frederick, J; Fotinakes, B; Strobel, S A

    2012-01-01

    We used computational linguistic and content analyses to explore the concept of project ownership for undergraduate research. We used linguistic analysis of student interview data to develop a quantitative methodology for assessing project ownership and applied this method to measure degrees of project ownership expressed by students in relation to different types of educational research experiences. The results of the study suggest that the design of a research experience significantly influences the degree of project ownership expressed by students when they describe those experiences. The analysis identified both positive and negative aspects of project ownership and provided a working definition for how a student experiences his or her research opportunity. These elements suggest several features that could be incorporated into an undergraduate research experience to foster a student's sense of project ownership.

  15. ECBM research within the Dutch CATO Project

    Cuesta, P.T.; Wolf, K.-H.; Pagnier, H.; Spiers, C.; Bergen, F. van

    2005-01-01

    This chapter determines the technical and economical feasibility of Enhanced Coalbed Methane (ECBM) as a way to geologically sequester CO2. A number of field projects are taking place and much laboratory work has already been done, but still there is little or no fundamental understanding of the

  16. The Sunflower Cardiopulmonary Research Project of Children.

    Greene, Leon

    A three year project designed to determine the value of a health program incorporating a cardiopulmonary fitness program is described. The instructional programs were in heart health, pulmonary health, nutrition, and physical fitness. A noncompetitive exercise and fitness period was employed in addition to the normal physical education time.…

  17. What Have Researchers Learned from Project STAR?

    Schanzenbach, Diane Whitmore

    2007-01-01

    Project STAR (Student/Teacher Achievement Ratio) was a large-scale randomized trial of reduced class sizes in kindergarten through the third grade. Because of the scope of the experiment, it has been used in many policy discussions. For example, the California statewide class-size-reduction policy was justified, in part, by the successes of…

  18. Cloud Based Resource for Data Hosting, Visualization and Analysis Using UCSC Cancer Genomics Browser | Informatics Technology for Cancer Research (ITCR)

    The Cancer Analysis Virtual Machine (CAVM) project will leverage cloud technology, the UCSC Cancer Genomics Browser, and the Galaxy analysis workflow system to provide investigators with a flexible, scalable platform for hosting, visualizing and analyzing their own genomic data.

  19. The Human Genome Project and Mental Retardation: An Educational Program. Final Progress Report

    Davis, Sharon

    1999-05-03

    The Arc, a national organization on mental retardation, conducted an educational program for members, many of whom have a family member with a genetic condition causing mental retardation. The project informed members about the Human Genome scientific efforts, conducted training regarding ethical, legal and social implications and involved members in issue discussions. Short reports and fact sheets on genetic and ELSI topics were disseminated to 2,200 of the Arc's leaders across the country and to other interested individuals. Materials produced by the project can e found on the Arc's web site, TheArc.org.

  20. Public trust and 'ethics review' as a commodity: the case of Genomics England Limited and the UK's 100,000 genomes project.

    Samuel, Gabrielle Natalie; Farsides, Bobbie

    2018-06-01

    The UK Chief Medical Officer's 2016 Annual Report, Generation Genome, focused on a vision to fully integrate genomics into all aspects of the UK's National Health Service (NHS). This process of integration, which has now already begun, raises a wide range of social and ethical concerns, many of which were discussed in the final Chapter of the report. This paper explores how the UK's 100,000 Genomes Project (100 kGP)-the catalyst for Generation Genome, and for bringing genomics into the NHS-is negotiating these ethical concerns. The UK's 100 kGP, promoted and delivered by Genomics England Limited (GEL), is an innovative venture aiming to sequence 100,000 genomes from NHS patients who have a rare disease, cancer, or an infectious disease. GEL has emphasised the importance of ethical governance and decision-making. However, some sociological critique argues that biomedical/technological organisations presenting themselves as 'ethical' entities do not necessarily reflect a space within which moral thinking occurs. Rather, the 'ethical work' conducted (and displayed) by organisations is more strategic, relating to the politics of the organisation and the need to build public confidence. We set out to explore whether GEL's ethical framework was reflective of this critique, and what this tells us more broadly about how genomics is being integrated into the NHS in response to the ethical and social concerns raised in Generation Genome. We do this by drawing on a series of 20 interviews with individuals associated with or working at GEL.

  1. Computing patient data in the cloud: practical and legal considerations for genetics and genomics research in Europe and internationally.

    Molnár-Gábor, Fruzsina; Lueck, Rupert; Yakneen, Sergei; Korbel, Jan O

    2017-06-20

    Biomedical research is becoming increasingly large-scale and international. Cloud computing enables the comprehensive integration of genomic and clinical data, and the global sharing and collaborative processing of these data within a flexibly scalable infrastructure. Clouds offer novel research opportunities in genomics, as they facilitate cohort studies to be carried out at unprecedented scale, and they enable computer processing with superior pace and throughput, allowing researchers to address questions that could not be addressed by studies using limited cohorts. A well-developed example of such research is the Pan-Cancer Analysis of Whole Genomes project, which involves the analysis of petabyte-scale genomic datasets from research centers in different locations or countries and different jurisdictions. Aside from the tremendous opportunities, there are also concerns regarding the utilization of clouds; these concerns pertain to perceived limitations in data security and protection, and the need for due consideration of the rights of patient donors and research participants. Furthermore, the increased outsourcing of information technology impedes the ability of researchers to act within the realm of existing local regulations owing to fundamental differences in the understanding of the right to data protection in various legal systems. In this Opinion article, we address the current opportunities and limitations of cloud computing and highlight the responsible use of federated and hybrid clouds that are set up between public and private partners as an adequate solution for genetics and genomics research in Europe, and under certain conditions between Europe and international partners. This approach could represent a sensible middle ground between fragmented individual solutions and a "one-size-fits-all" approach.

  2. Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project.

    Biesecker, Leslie G

    2012-04-01

    The debate surrounding the return of results from high-throughput genomic interrogation encompasses many important issues including ethics, law, economics, and social policy. As well, the debate is also informed by the molecular, genetic, and clinical foundations of the emerging field of clinical genomics, which is based on this new technology. This article outlines the main biomedical considerations of sequencing technologies and demonstrates some of the early clinical experiences with the technology to enable the debate to stay focused on real-world practicalities. These experiences are based on early data from the ClinSeq project, which is a project to pilot the use of massively parallel sequencing in a clinical research context with a major aim to develop modes of returning results to individual subjects. The study has enrolled >900 subjects and generated exome sequence data on 572 subjects. These data are beginning to be interpreted and returned to the subjects, which provides examples of the potential usefulness and pitfalls of clinical genomics. There are numerous genetic results that can be readily derived from a genome including rare, high-penetrance traits, and carrier states. However, much work needs to be done to develop the tools and resources for genomic interpretation. The main lesson learned is that a genome sequence may be better considered as a health-care resource, rather than a test, one that can be interpreted and used over the lifetime of the patient.

  3. Balancing Benefits and Risks of Immortal Data: Participants' Views of Open Consent in the Personal Genome Project.

    Zarate, Oscar A; Brody, Julia Green; Brown, Phil; Ramirez-Andreotta, Mónica D; Perovich, Laura; Matz, Jacob

    2016-01-01

    An individual's health, genetic, or environmental-exposure data, placed in an online repository, creates a valuable shared resource that can accelerate biomedical research and even open opportunities for crowd-sourcing discoveries by members of the public. But these data become "immortalized" in ways that may create lasting risk as well as benefit. Once shared on the Internet, the data are difficult or impossible to redact, and identities may be revealed by a process called data linkage, in which online data sets are matched to each other. Reidentification (re-ID), the process of associating an individual's name with data that were considered deidentified, poses risks such as insurance or employment discrimination, social stigma, and breach of the promises often made in informed-consent documents. At the same time, re-ID poses risks to researchers and indeed to the future of science, should re-ID end up undermining the trust and participation of potential research participants. The ethical challenges of online data sharing are heightened as so-called big data becomes an increasingly important research tool and driver of new research structures. Big data is shifting research to include large numbers of researchers and institutions as well as large numbers of participants providing diverse types of data, so the participants' consent relationship is no longer with a person or even a research institution. In addition, consent is further transformed because big data analysis often begins with descriptive inquiry and generation of a hypothesis, and the research questions cannot be clearly defined at the outset and may be unforeseeable over the long term. In this article, we consider how expanded data sharing poses new challenges, illustrated by genomics and the transition to new models of consent. We draw on the experiences of participants in an open data platform-the Personal Genome Project-to allow study participants to contribute their voices to inform ethical consent

  4. US heat pump research and development projects, 1976-1986

    Zimmerman, K.H.

    1987-04-01

    This document, which is an updated version of US Heat Pump Research and Development Projects, published in August 1982 by the US Department of Energy, is a compilation of one-page summaries and publication and patent information for 233 individual research and development projects on heat pumps covering the years 1976 through 1986. The majority of the projects refer to heat pumps in space-conditioning applications. The document is intended to include information on all projects in the United States for which results are publicly available. Ten different indexes are included to aid the reader in locating specific projects.

  5. Scientific projection paper for space radiobiological research

    Vinograd, S.P.

    1980-01-01

    A nationale for the radiobiological research requirements for space is rooted in a national commitment to the exploration of space, mandated in the form of the National Space Act. This research is almost entirely centered on man; more specifically, on the effects of the space radiation environment on man and his protection from them. The research needs discussed in this presentation include the space radiation environment; dosimetry; radiation biology-high LET particles (dose/response); and operational countermeasures

  6. RESEARCH NOTE Genome-based exome-sequencing analysis ...

    Navya

    2017-02-22

    Feb 22, 2017 ... Genome-based exome-sequencing analysis identifies GYG1, DIS3L, DDRGK1 genes ... Cardiology Division, Department of Internal Medicine, Severance .... with p values of <0.05 byanalyzing differences in allele distribution.

  7. Accelerating research through reagent repositories: the genome editing example.

    Joung, J Keith; Voytas, Daniel F; Kamens, Joanne

    2015-11-20

    Keith Joung, Dan Voytas and Joanne Kamens share insights into how the genome editing field was advanced by early access to biological resources and the role in this process that plasmid repositories play.

  8. Researchers' experiences, positive and negative, in integrative landscape projects

    Tress, B.; Tress, G.; Fry, G.

    2005-01-01

    Integrative (interdisciplinary and transdisciplinary) landscape research projects are becoming increasingly common. As a result, researchers are spending a larger proportion of their professional careers doing integrative work, participating in shifting interdisciplinary teams, and cooperating

  9. Distributed Research Project Scheduling Based on Multi-Agent Methods

    Constanta Nicoleta Bodea

    2011-01-01

    Full Text Available Different project planning and scheduling approaches have been developed. The Operational Research (OR provides two major planning techniques: CPM (Critical Path Method and PERT (Program Evaluation and Review Technique. Due to projects complexity and difficulty to use classical methods, new approaches were developed. Artificial Intelligence (AI initially promoted the automatic planner concept, but model-based planning and scheduling methods emerged later on. The paper adresses the project scheduling optimization problem, when projects are seen as Complex Adaptive Systems (CAS. Taken into consideration two different approaches for project scheduling optimization: TCPSP (Time- Constrained Project Scheduling and RCPSP (Resource-Constrained Project Scheduling, the paper focuses on a multiagent implementation in MATLAB for TCSP. Using the research project as a case study, the paper includes a comparison between two multi-agent methods: Genetic Algorithm (GA and Ant Colony Algorithm (ACO.

  10. Synthesized research report in the second mid-term research phase. Mizunami Underground Research Laboratory project, Horonobe Underground Research Laboratory project and geo-stability project (Translated document)

    Hama, Katsuhiro; Sasao, Eiji; Iwatsuki, Teruki; Onoe, Hironori; Sato, Toshinori; Yasue, Kenichi; Asamori, Koichi; Niwa, Masakazu; Osawa, Hideaki; Nagae, Isako; Natsuyama, Ryoko; Fujita, Tomoo; Sasamoto, Hiroshi; Matsuoka, Toshiyuki; Takeda, Masaki; Aoyagi, Kazuhei; Nakayama, Masashi; Miyakawa, Kazuya; Ito, Hiroaki; Ohyama, Takuya; Senba, Takeshi; Amano, Kenji

    2016-08-01

    We have synthesized the research results from the Mizunami/Horonobe Underground Research Laboratories (URLs) and geo-stability projects in the second mid-term research phase. This report can be used as a technical basis for the Nuclear Waste Management Organization of Japan/Regulator at each decision point from siting to beginning of disposal (Principal Investigation to Detailed Investigation Phase). High-quality construction techniques and field investigation methods have been developed and implemented, which will be directly applicable to the National Disposal Program (together with general assessments of hazardous natural events and processes). Acquisition of technical knowledge on decisions of partial backfilling and final closure from actual field experiments in the Mizunami/Horonobe URLs will be crucial as the main theme for the next phases. (author)

  11. Ethical issues and best practice in clinically based genomic research: Exeter Stakeholders Meeting Report

    Carrieri, D; Bewshea, C; Walker, G; Ahmad, T; Bowen, W; Hall, A; Kelly, S

    2016-01-01

    Current guidelines on consenting individuals to participate in genomic research are diverse. This creates problems for participants and also for researchers, particularly for clinicians who provide both clinical care and research to their patients. A group of 14 stakeholders met on 7 October 2015 in Exeter to discuss the ethical issues and the best practice arising in clinically based genomic research, with particular emphasis on the issue of returning results to study participants/patients i...

  12. Research study on analysis/use technologies of genome information; Genome joho kaidoku riyo gijutsu no chosa kenkyu

    NONE

    1997-03-01

    For wide use of genome information in the industrial field, the required R and D was surveyed from the standpoints of biology and information science. To clarify the present state and issues of the international research on genome analysis, the genome map as well as sequence and function information are first surveyed. The current analysis/use technologies of genome information are analyzed, and the following are summarized: prediction and identification of gene regions in genome sequences, techniques for searching and selecting useful genes, and techniques for predicting the expression of gene functions and the gene-product structure and functions. It is recommended that R and D and data collection/interpretation necessary to clarify inter-gene interactions and information networks should be promoted by integrating Japanese advanced know-how and technologies. As examples of the impact of the research results on industry and society, the present state and future expected effect are summarized for medicines, diagnosis/analysis instruments, chemicals, foods, agriculture, fishery, animal husbandry, electronics, environment and information. 278 refs., 42 figs., 5 tabs.

  13. Researching wicked problems in a construction project

    Jacobsen, Peter Holm

    (Lave, 1988) and critical psychology (Axel, 2002; Dreier, 2008; Højholt & Kousholt, 2011). Situated learning theories have developed some valuable methodologies that can be used to study learning as an aspect of social practices and critical psychology have expanded theories of situated learning...... be elaborated more upon (Pink et. al., 2010). Getting access, formulating strategies for analyses, finding concepts and selecting methods such as participant observations and interviews are often problematic aspects, that influences the knowledge that researchers produces in a number of ways that relates...... to empirical research. I will argue that uncertainty is an important aspect of doing empirical research because the empirical research is a part of a situated learning process and that uncertain situations are a central part of conducting empirical research. I will use an example from my study of the early...

  14. Whitehead Policy Symposium. The Human Genome Project: Science, law, and social change in the 21st century

    Nichols, E.K.

    2000-02-17

    Advances in the biomedical sciences, especially in human genomics, will dramatically influence law, medicine, public health, and many other sectors of our society in the decades ahead. The public already senses the revolutionary nature of genomic knowledge. In the US and Europe, we have seen widespread discussions about genetic discrimination in health insurance; privacy issues raised by the proliferation of DNA data banks; the challenge of interpreting new DNA diagnostic tests; changing definitions of what it means to be healthy; and the science and ethics of cloning animals and human beings. The primary goal of the Whitehead/ASLME Policy Symposium was to provide a bridge between the research community and professionals, who were just beginning to grasp the potential impact of new genetic technologies on their fields. The ''Human Genome Project: Science, Law, and Social Change in the 21st Century'' initially was designed as a forum for 300-500 physicians, lawyers, consumers, ethicists, and scientists to explore the impact of new genetic technologies and prepare for the challenges ahead.

  15. SAGE as a Source for Undergraduate Research Projects

    Hutz, Benjamin

    2017-01-01

    This article examines the use of the computer algebra system SAGE for undergraduate student research projects. After reading this article, the reader should understand the benefits of using SAGE as a source of research projects and how to commence working with SAGE. The author proposes a tiered working group model to allow maximum benefit to the…

  16. The Bitterroot Ecosystem Management Research Project: What we have learned

    Helen Y. Smith

    2000-01-01

    The varied topics presented in these symposium proceedings represent the diverse nature of the Bitterroot Ecosystem Management Research Project (BEMRP). Separated into six sections, the papers cover the different themes researched by BEMRP collaborators as well as brief overviews of five other ecosystem management projects. The sections are: Understanding the Ecosystem...

  17. Research Applications for Teaching (RAFT) Project. Final Report.

    Thomson, James R., Jr.; Handley, Herbert M.

    A report is given of the development and progress of the Research Applications for Teaching (RAFT) project, developed at Mississippi State University. Based upon research findings relative to effective teaching and effective schooling, five curriculum modules were prepared and implemented in instruction. In the second year of the project the…

  18. Understanding the selection processes of public research projects

    Materia, V.C.; Pascucci, S.; Kolympiris, C.

    2015-01-01

    This paper analyses factors that affect the funding of agricultural research projects by regional governments and other regional public authorities. We study the selection process of agricultural research projects funded by the emilia Romagna regional government in Italy, which follows funding

  19. Defining and implementing a model for pharmacy resident research projects

    Dick TB

    2015-09-01

    Full Text Available Objective: To describe a standard approach to provide a support structure for pharmacy resident research that emphasizes self-identification of a residency research project. Methods: A subcommittee of the residency advisory committee was formed at our institution. The committee was initially comprised of 2 clinical pharmacy specialists, 1 drug information pharmacist, and 2 pharmacy administrators. The committee developed research guidelines that are distributed to residents prior to the residency start that detail the research process, important deadlines, and available resources. Instructions for institutional review board (IRB training and deadlines for various assignments and presentations throughout the residency year are clearly defined. Residents conceive their own research project and emphasis is placed on completing assignments early in the residency year. Results: In the 4 years this research process has been in place, 15 of 16 (94% residents successfully identified their own research question. All 15 residents submitted a complete research protocol to the IRB by the August deadline. Four residents have presented the results of their research at multi-disciplinary national professional meetings and 1 has published a manuscript. Feedback from outgoing residents has been positive overall and their perceptions of their research projects and the process are positive. Conclusion: Pharmacy residents selecting their own research projects for their residency year is a feasible alternative to assigning or providing lists of research projects from which to select a project.

  20. The human genome project: Information management, access, and regulation. Technical progress report, 1 April--31 August 1993

    McInerney, J.D.; Micikas, L.B.

    1993-09-10

    Efforts are described to prepare educational materials including computer based as well as conventional type teaching materials for training interested high school and elementary students in aspects of Human Genome Project.

  1. Norwegian computers in European energy research project

    Anon.

    1979-01-01

    16 NORD computers have been ordered for the JET data acquisition and storage system. The computers will be arranged in a 'double star' configuration, developed by CERN. Two control consoles each have their own computer. All computers for communication, control, diagnostics, consoles and testing are NORD-100s while the computer for data storage and analysis is a NORD-500. The operating system is SINTRAN CAMAC SERIAL HIGHWAY with fibre optics to be used for long communications paths. The programming languages FORTRAN, NODAL, NORD PL, PASCAL and BASIC may be used. The JET project and TOKAMAK type machines are briefly described. (JIW)

  2. Designing and Conducting Health Systems Research Projects ...

    Giving girls and women the power to decide. Addressing Africa's unmet need for family planning by intensifying sexual and reproductive and adolescent health research. View moreGiving girls and women the power to decide ...

  3. Research Projects, Technical Reports and Publications

    Oliger, Joseph

    1996-01-01

    The Research Institute for Advanced Computer Science (RIACS) was established by the Universities Space Research Association (USRA) at the NASA Ames Research Center (ARC) on June 6, 1983. RIACS is privately operated by USRA, a consortium of universities with research programs in the aerospace sciences, under contract with NASA. The primary mission of RIACS is to provide research and expertise in computer science and scientific computing to support the scientific missions of NASA ARC. The research carried out at RIACS must change its emphasis from year to year in response to NASA ARC's changing needs and technological opportunities. A flexible scientific staff is provided through a university faculty visitor program, a post doctoral program, and a student visitor program. Not only does this provide appropriate expertise but it also introduces scientists outside of NASA to NASA problems. A small group of core RIACS staff provides continuity and interacts with an ARC technical monitor and scientific advisory group to determine the RIACS mission. RIACS activities are reviewed and monitored by a USRA advisory council and ARC technical monitor. Research at RIACS is currently being done in the following areas: Advanced Methods for Scientific Computing High Performance Networks During this report pefiod Professor Antony Jameson of Princeton University, Professor Wei-Pai Tang of the University of Waterloo, Professor Marsha Berger of New York University, Professor Tony Chan of UCLA, Associate Professor David Zingg of University of Toronto, Canada and Assistant Professor Andrew Sohn of New Jersey Institute of Technology have been visiting RIACS. January 1, 1996 through September 30, 1996 RIACS had three staff scientists, four visiting scientists, one post-doctoral scientist, three consultants, two research associates and one research assistant. RIACS held a joint workshop with Code 1 29-30 July 1996. The workshop was held to discuss needs and opportunities in basic research in

  4. Budgeting, funding, and managing clinical research projects.

    Hatfield, Elizabeth; Dicks, Elizabeth; Parfrey, Patrick

    2009-01-01

    Large, integrated multidisciplinary teams have become recognized as an efficient means by which to drive innovation and discovery in clinical research. This chapter describes how to budget and fund these large studies and effectively manage the large, often dispersed teams involved. Sources of funding are identified; budget development, justification, reporting, financial governance, and accountability are described; in addition to the creation and management of the multidisciplinary team that will implement the research plan.

  5. Hunting for genes for hypertension: the Millennium Genome Project for Hypertension.

    Tabara, Yasuharu; Kohara, Katsuhiko; Miki, Tetsuro

    2012-06-01

    The Millennium Genome Project for Hypertension was started in 2000 to identify genetic variants conferring susceptibility to hypertension, with the aim of furthering the understanding of the pathogenesis of this condition and realizing genome-based personalized medical care. Two different approaches were launched, genome-wide association analysis using single-nucleotide polymorphisms (SNPs) and microsatellite markers, and systematic candidate gene analysis, under the hypothesis that common variants have an important role in the etiology of common diseases. These multilateral approaches identified ATP2B1 as a gene responsible for hypertension in not only Japanese but also Caucasians. The high blood pressure susceptibility conferred by certain alleles of ATP2B1 has been widely replicated in various populations. Ex vivo mRNA expression analysis in umbilical artery smooth muscle cells indicated that reduced expression of this gene associated with the risk allele may be an underlying mechanism relating the ATP2B1 variant to hypertension. However, the effect size of a SNP was too small to clarify the entire picture of the genetic basis of hypertension. Further, dense genome analysis with accurate phenotype data may be required.

  6. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.

    Higgins, Anne W; Alkuraya, Fowzan S; Bosco, Amy F; Brown, Kerry K; Bruns, Gail A P; Donovan, Diana J; Eisenman, Robert; Fan, Yanli; Farra, Chantal G; Ferguson, Heather L; Gusella, James F; Harris, David J; Herrick, Steven R; Kelly, Chantal; Kim, Hyung-Goo; Kishikawa, Shotaro; Korf, Bruce R; Kulkarni, Shashikant; Lally, Eric; Leach, Natalia T; Lemyre, Emma; Lewis, Janine; Ligon, Azra H; Lu, Weining; Maas, Richard L; MacDonald, Marcy E; Moore, Steven D P; Peters, Roxanna E; Quade, Bradley J; Quintero-Rivera, Fabiola; Saadi, Irfan; Shen, Yiping; Shendure, Jay; Williamson, Robin E; Morton, Cynthia C

    2008-03-01

    Apparently balanced chromosomal rearrangements in individuals with major congenital anomalies represent natural experiments of gene disruption and dysregulation. These individuals can be studied to identify novel genes critical in human development and to annotate further the function of known genes. Identification and characterization of these genes is the goal of the Developmental Genome Anatomy Project (DGAP). DGAP is a multidisciplinary effort that leverages the recent advances resulting from the Human Genome Project to increase our understanding of birth defects and the process of human development. Clinically significant phenotypes of individuals enrolled in DGAP are varied and, in most cases, involve multiple organ systems. Study of these individuals' chromosomal rearrangements has resulted in the mapping of 77 breakpoints from 40 chromosomal rearrangements by FISH with BACs and fosmids, array CGH, Southern-blot hybridization, MLPA, RT-PCR, and suppression PCR. Eighteen chromosomal breakpoints have been cloned and sequenced. Unsuspected genomic imbalances and cryptic rearrangements were detected, but less frequently than has been reported previously. Chromosomal rearrangements, both balanced and unbalanced, in individuals with multiple congenital anomalies continue to be a valuable resource for gene discovery and annotation.

  7. CRISPR Genome Engineering for Human Pluripotent Stem Cell Research.

    Chaterji, Somali; Ahn, Eun Hyun; Kim, Deok-Ho

    2017-01-01

    The emergence of targeted and efficient genome editing technologies, such as repurposed bacterial programmable nucleases (e.g., CRISPR-Cas systems), has abetted the development of cell engineering approaches. Lessons learned from the development of RNA-interference (RNA-i) therapies can spur the translation of genome editing, such as those enabling the translation of human pluripotent stem cell engineering. In this review, we discuss the opportunities and the challenges of repurposing bacterial nucleases for genome editing, while appreciating their roles, primarily at the epigenomic granularity. First, we discuss the evolution of high-precision, genome editing technologies, highlighting CRISPR-Cas9. They exist in the form of programmable nucleases, engineered with sequence-specific localizing domains, and with the ability to revolutionize human stem cell technologies through precision targeting with greater on-target activities. Next, we highlight the major challenges that need to be met prior to bench-to-bedside translation, often learning from the path-to-clinic of complementary technologies, such as RNA-i. Finally, we suggest potential bioinformatics developments and CRISPR delivery vehicles that can be deployed to circumvent some of the challenges confronting genome editing technologies en route to the clinic.

  8. Transforming Roles: Canadian Academic Librarians Embedded in Faculty Research Projects

    Bedi, Shailoo; Waldie, Christine

    2017-01-01

    Academic librarians have always played an important role in providing research services and research-skills development to faculty in higher education. But that role is evolving to include the academic librarian as a unique and necessary research partner, practitioner, and participant in collaborative, grant-funded research projects. This article…

  9. AVST Morphing Project Research Summaries in Fiscal Year 2001

    McGowan, Anna-Maria R.

    2002-01-01

    The Morphing project at the National Aeronautics and Space Agency's Langley Research Center is part of the Aerospace Vehicle Systems Program Office that conducts fundamental research on advanced technologies for future flight vehicles. The objectives of the Morphing project are to develop and assess advanced technologies and integrated component concepts to enable efficient, multi-point adaptability in air and space vehicles. In the context of the project, the word "morphing" is defined as "efficient, multi-point adaptability" and may include micro or macro, structural or fluidic approaches. The current document on the Morphing project is a compilation of research summaries and other information on the project from fiscal year 2001. The focus of this document is to provide a brief overview of the project content, technical results and lessons learned from fiscal year 2001.

  10. NASA's Morphing Project Research Summaries in Fiscal Year 2002

    McGowan, Anna-Maria R.; Waszak, Martin R.

    2005-01-01

    The Morphing Project at the National Aeronautics and Space Agency s (NASA) Langley Research Center (LaRC) is part of the Breakthrough Vehicle Technologies Project, Vehicle Systems Program that conducts fundamental research on advanced technologies for future flight vehicles. The objectives of the Morphing Project are to develop and assess the advanced technologies and integrated component concepts to enable efficient, multi-point adaptability of flight vehicles; primarily through the application of adaptive structures and adaptive flow control to substantially alter vehicle performance characteristics. This document is a compilation of research summaries and other information on the project for fiscal year 2002. The focus is to provide a brief overview of the project content, technical results and lessons learned. At the time of publication, the Vehicle Systems Program (which includes the Morphing Project) is undergoing a program re-planning and reorganization. Accordingly, the programmatic descriptions of this document pertain only to the program as of fiscal year 2002.

  11. Thorough analysis of unorthodox ABO deletions called by the 1000 Genomes project.

    Möller, M; Hellberg, Å; Olsson, M L

    2018-02-01

    ABO remains the clinically most important blood group system, but despite earlier extensive research, significant findings are still being made. The vast majority of catalogued ABO null alleles are based on the c.261delG polymorphism. Apart from c.802G>A, other mechanisms for O alleles are rare. While analysing the data set from the 1000 Genomes (1000G) project, we encountered two previously uncharacterized deletions, which needed further exploration. The Erythrogene database, complemented with bioinformatics software, was used to analyse ABO in 2504 individuals from 1000G. DNA samples from selected 1000G donors and African blood donors were examined by allele-specific PCR and Sanger sequencing to characterize predicted deletions. A 5821-bp deletion encompassing exons 5-7 was called in twenty 1000G individuals, predominantly Africans. This allele was confirmed and its exact deletion point defined by bioinformatic analyses and in vitro experiments. A PCR assay was developed, and screening of African samples revealed three donors heterozygous for this deletion, which was thereby phenotypically established as an O allele. Analysis of upstream genetic markers indicated an ancestral origin from ABO*O.01.02. We estimate this deletion as the 3rd most common mechanism behind O alleles. A 24-bp deletion was called in nine individuals and showed greater diversity regarding ethnic distribution and allelic background. It could neither be confirmed by in silico nor in vitro experiments. A previously uncharacterized ABO deletion among Africans was comprehensively mapped and a genotyping strategy devised. The false prediction of another deletion emphasizes the need for cautious interpretation of NGS data and calls for strict validation routines. © 2017 International Society of Blood Transfusion.

  12. Synthesized research report in the second mid-term research phase. Mizunami Underground Research Laboratory project, Horonobe Underground Research Laboratory project and geo-stability project

    Hama, Katsuhiro; Sasao, Eiji; Iwatsuki, Teruki; Saegusa, Hiromitsu; Sato, Toshinori; Umeda, Koji; Yasue, Kenichi; Asamori, Koichi; Osawa, Hideaki; Koide, Kaoru; Nagae, Isako; Natsuyama, Ryoko; Mizuno, Takashi; Fujita, Tomoo; Sasamoto, Hiroshi; Matsuoka, Toshiyuki; Yokota, Hideharu; Ishii, Eiichi; Aoyagi, Kazuhei; Nakayama, Masashi; Ito, Hiroaki; Tsusaka, Kimikazu; Ohyama, Takuya; Senba, Takeshi; Amano, Kenji

    2015-08-01

    We have synthesised the research results from Mizunami/Horonobe URLs and geo-stability projects in the second mid-term research phase. It could be used as technical bases for NUMO/Regulator in each decision point from siting to beginning of disposal (Principal Investigation to Detailed Investigation Phase). High quality construction techniques and field investigation methods have been developed and implemented and these will be directly applicable to the National Disposal Program (along with general assessments of hazardous natural events and processes). It will be crucial to acquire technical knowledge on decisions of partial backfilling and final closure by actual field experiments in Mizunami/Horonobe URLs as main themes for the next phases. (author)

  13. Integrating Public Health and Deliberative Public Bioethics: Lessons from the Human Genome Project Ethical, Legal, and Social Implications Program.

    Meagher, Karen M; Lee, Lisa M

    2016-01-01

    Public health policy works best when grounded in firm public health standards of evidence and widely shared social values. In this article, we argue for incorporating a specific method of ethical deliberation--deliberative public bioethics--into public health. We describe how deliberative public bioethics is a method of engagement that can be helpful in public health. Although medical, research, and public health ethics can be considered some of what bioethics addresses, deliberative public bioethics offers both a how and where. Using the Human Genome Project Ethical, Legal, and Social Implications program as an example of effective incorporation of deliberative processes to integrate ethics into public health policy, we examine how deliberative public bioethics can integrate both public health and bioethics perspectives into three areas of public health practice: research, education, and health policy. We then offer recommendations for future collaborations that integrate deliberative methods into public health policy and practice.

  14. Diversity in research projects - A key to success?

    Henkel, Daniela; Eisenhauer, Anton; Taubner, Isabelle

    2017-04-01

    According to demographers, psychologists, sociologists and economists diverse groups, which are groups of different race, ethnicity, gender and sexual orientation, are more innovative than homogeneous groups. This is also true for groups working together in research collaborations and international cooperation involving a culturally and functionally diverse mix of individuals who have to be integrated into an effective unit - a project team. If the goal is scientific excellence, diversity should be an essential ingredient to conduct science on high level productivity, quality and innovation. Effective teamwork is a key to project success and prime responsibilities of the project manager. Therefore, the project manager has to take into consideration different characteristics such as cultures, languages, and different values related to individual project partners. Here we show how diversity can affect the performance of a research project. Furthermore, the presentation indicates skills and abilities which are required for the management in order to deal also with the challenges of diversity in research projects. The presentation is based on insights experienced in the context of an Innovative Training Network (ITN) project within Marie Skłodowska-Curie Actions of the European HORIZON 2020 program and TRION a Collaborative Research Project in the Framework of the Trilateral Program of the German Research Foundation.

  15. Fiscal 1998 industrial science and technology R and D project. Research report on R and D of genome informatics technology (Development of stable oil supply measures using complex biosystem); 1998 nendo genome informatics gijutsu kenkyu kaihtsu seika hokokusho. Fukugo seibutsukei riyo sekiyu antei kyokyu taisaku kaihatsu

    NONE

    1999-03-01

    This report describes the fiscal 1998 result on development of genome informatics technology. As comparative analysis technique of genes, the combination of electrophoresis and PCR was used. For improvement of the throughput and reproducibility of the technique, module- shuffling primers were used, and the multi(96)-arrayed capillary fragment analyzer was devised. The system detecting SNPs rapidly was also developed successfully. As analysis technology of DNA sequence by use of triple- stranded DNA formation, study was made on construction of long cDNA libraries, selective subtraction of specific sequences from libraries, and the basic technology of homologous cloning. Study was also made on each reaction step of IGCR technique for fast analysis, and specifications of a fluorescence transfer monitor. As modeling technique of genetic sequence information, the simulation model was developed for gene expression regulatory networks during muscle differentiation, and feedback regulation of period genes. Such support systems as transcription factor prediction and gene regulatory network inference were developed from existing data. (NEDO)

  16. Research projects in family medicine funded by the European Union.

    Pavličević, Ivančica; Barać, Lana

    2014-01-01

    This study aimed at synthesizing funding opportunities in the field of family medicine by determining the number of family medicine projects, as well as number of project leaderships and/ or participations by each country. This was done in order to encourage inclusion of physicians in countries with underdeveloped research networks in successful research networks or to encourage them to form new ones. We searched the Community Research and Development Information Service project database in February 2013. Study covered the period from years 1992 - 2012, selecting the projects within the field of general/family medicine. The search was conducted in February 2013. First search conducted in the CORDIS database came up with a total of 466 projects. After excluding 241 projects with insufficient data, we analysed 225 remaining projects; out of those, 22 (9.8%) were in the field of family medicine and 203 (90.2%) were from other fields of medicine. Sorted by the number of projects per country, Dutch institutions had the highest involvement in family medicine projects and were partners or coordinators in 18 out of 22 selected projects (81.8%), followed by British institutions with 15 (68.8%), and Spanish with 10 projects (45.5%). Croatia was a partner in a single FP7 Health project. Research projects in family medicine funded by the European Union show significant differences between countries. Constant and high-quality international cooperation in family medicine is the prerequisite for improvement and development of scientific research and the profession. Copyright © 2014 by Academy of Sciences and Arts of Bosnia and Herzegovina.

  17. Leading Undergraduate Research Projects in Mathematical Modeling

    Seshaiyer, Padmanabhan

    2017-01-01

    In this article, we provide some useful perspectives and experiences in mentoring students in undergraduate research (UR) in mathematical modeling using differential equations. To engage students in this topic, we present a systematic approach to the creation of rich problems from real-world phenomena; present mathematical models that are derived…

  18. 77 FR 50140 - National Human Genome Research Institute; Notice of Closed Meeting

    2012-08-20

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., Human Genome Research, National Institutes of Health, HHS) Dated: August 13, 2012. Anna Snouffer, Deputy..., Bethesda, MD 20892. Contact Person: Camilla E. Day, Ph.D., Scientific Review Officer, CIDR, National Human...

  19. 77 FR 64816 - National Human Genome Research Institute; Notice of Closed Meeting

    2012-10-23

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., Human Genome Research, National Institutes of Health, HHS) Dated: October 16, 2012. David Clary, Program... Conference Call). Contact Person: Camilla E. Day, Ph.D., Scientific Review Officer, CIDR, National Human...

  20. 78 FR 11898 - National Human Genome Research Institute; Notice of Closed Meeting

    2013-02-20

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome....172, Human Genome Research, National Institutes of Health, HHS) Dated: February 13, 2013. David Clary... Conference Call). Contact Person: Camilla E. Day, Ph.D., Scientific Review Officer CIDR, National Human...

  1. 78 FR 77477 - National Human Genome Research Institute; Notice of Closed Meeting

    2013-12-23

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., Human Genome Research, National Institutes of Health, HHS). Dated: December 17, 2013. David Clary... Conference Call). Contact Person: Camilla E. Day, Ph.D., Scientific Review Officer, CIDR, National Human...

  2. Standardized analysis and sharing of genome-phenome data for neuromuscular and rare disease research through the RD-Connect platform

    Thompson, Rachel; Beltran, Sergi; Papakonstantinou, Anastasios; Cañada, Andrés; Fernández, Jose Maria; Thompson, Mark; Kaliyaperumal, Rajaram; Lair, Séverine; Sernadela, Pedro; Girdea, Marta; Brudno, Michael; Blavier, André; Lochmüller, Hanns; Roos, Andreas; Straub, Volker

    2016-01-01

    Abstract: RD-Connect (rd-connect.eu) is an EU-funded project building an integrated platform to narrow the gaps in rare disease research, where patient populations, clinical expertise and research communities are small in number and highly fragmented. Guided by the needs of rare disease researchers and with neuromuscular and neurodegenerative researchers as its original collaborators, the RD-Connect platform securely integrates multiple types of omics data (genomics, proteomics and transcript...

  3. CRISPR/Cas9 for Human Genome Engineering and Disease Research.

    Xiong, Xin; Chen, Meng; Lim, Wendell A; Zhao, Dehua; Qi, Lei S

    2016-08-31

    The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated 9 (Cas9) system, a versatile RNA-guided DNA targeting platform, has been revolutionizing our ability to modify, manipulate, and visualize the human genome, which greatly advances both biological research and therapeutics development. Here, we review the current development of CRISPR/Cas9 technologies for gene editing, transcription regulation, genome imaging, and epigenetic modification. We discuss the broad application of this system to the study of functional genomics, especially genome-wide genetic screening, and to therapeutics development, including establishing disease models, correcting defective genetic mutations, and treating diseases.

  4. Genome Writing: Current Progress and Related Applications

    Yueqiang Wang

    2018-02-01

    Full Text Available The ultimate goal of synthetic biology is to build customized cells or organisms to meet specific industrial or medical needs. The most important part of the customized cell is a synthetic genome. Advanced genomic writing technologies are required to build such an artificial genome. Recently, the partially-completed synthetic yeast genome project represents a milestone in this field. In this mini review, we briefly introduce the techniques for de novo genome synthesis and genome editing. Furthermore, we summarize recent research progresses and highlight several applications in the synthetic genome field. Finally, we discuss current challenges and future prospects. Keywords: Synthetic biology, Genome writing, Genome editing, Bioethics, Biosafety

  5. A ProCoS II Project Final Report: ESPRIT Basic Research project 707

    Bowen, J. P.; Hoare, C. A. R.; Langmaack, Hans

    1996-01-01

    An overview of the research and associated activities of the Europeancollaborative ESPRIT Basic Research ProCoS II project (no. 7071) on``Provably Correct Systems'' which ran from 1992 to 1995 is presented.This was a follow-on project to ProCoS (no. 3104) and ran inparallel with the ProCoS Working...

  6. Genomic sequencing in clinical trials

    Mestan, Karen K; Ilkhanoff, Leonard; Mouli, Samdeep; Lin, Simon

    2011-01-01

    Abstract Human genome sequencing is the process by which the exact order of nucleic acid base pairs in the 24 human chromosomes is determined. Since the completion of the Human Genome Project in 2003, genomic sequencing is rapidly becoming a major part of our translational research efforts to understand and improve human health and disease. This article reviews the current and future directions of clinical research with respect to genomic sequencing, a technology that is just beginning to fin...

  7. What research ethics should learn from genomics and society research: lessons from the ELSI Congress of 2011.

    Henderson, Gail E; Juengst, Eric T; King, Nancy M P; Kuczynski, Kristine; Michie, Marsha

    2012-01-01

    Research on the ethical, legal, and social implications (ELSI) of human genomics has devoted significant attention to the research ethics issues that arise from genomic science as it moves through the translational process. Given the prominence of these issues in today's debates over the state of research ethics overall, these studies are well positioned to contribute important data, contextual considerations, and policy arguments to the wider research ethics community's deliberations, and ultimately to develop a research ethics that can help guide biomedicine's future. In this essay, we illustrate this thesis through an analytic summary of the research presented at the 2011 ELSI Congress, an international meeting of genomics and society researchers. We identify three pivotal factors currently shaping genomic research, its clinical translation, and its societal implications: (1) the increasingly blurred boundary between research and treatment; (2) uncertainty--that is, the indefinite, indeterminate, and incomplete nature of much genomic information and the challenges that arise from making meaning and use of it; and (3) the role of negotiations between multiple scientific and non-scientific stakeholders in setting the priorities for and direction of biomedical research, as it is increasingly conducted "in the public square." © 2012 American Society of Law, Medicine & Ethics, Inc.

  8. The Genomes OnLine Database (GOLD) v.5: a metadata management system based on a four level (meta)genome project classification

    Reddy, T.B.K.; Thomas, Alex D.; Stamatis, Dimitri; Bertsch, Jon; Isbandi, Michelle; Jansson, Jakob; Mallajosyula, Jyothi; Pagani, Ioanna; Lobos, Elizabeth A.; Kyrpides, Nikos C.

    2015-01-01

    The Genomes OnLine Database (GOLD; http://www.genomesonline.org) is a comprehensive online resource to catalog and monitor genetic studies worldwide. GOLD provides up-to-date status on complete and ongoing sequencing projects along with a broad array of curated metadata. Here we report version 5 (v.5) of the database. The newly designed database schema and web user interface supports several new features including the implementation of a four level (meta)genome project classification system and a simplified intuitive web interface to access reports and launch search tools. The database currently hosts information for about 19 200 studies, 56 000 Biosamples, 56 000 sequencing projects and 39 400 analysis projects. More than just a catalog of worldwide genome projects, GOLD is a manually curated, quality-controlled metadata warehouse. The problems encountered in integrating disparate and varying quality data into GOLD are briefly highlighted. GOLD fully supports and follows the Genomic Standards Consortium (GSC) Minimum Information standards. PMID:25348402

  9. The Genomes OnLine Database (GOLD) v.5: a metadata management system based on a four level (meta)genome project classification

    Reddy, Tatiparthi B. K. [USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States); Thomas, Alex D. [USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States); Stamatis, Dimitri [USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States); Bertsch, Jon [USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States); Isbandi, Michelle [USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States); Jansson, Jakob [USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States); Mallajosyula, Jyothi [USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States); Pagani, Ioanna [USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States); Lobos, Elizabeth A. [USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States); Kyrpides, Nikos C. [USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States); King Abdulaziz Univ., Jeddah (Saudi Arabia)

    2014-10-27

    The Genomes OnLine Database (GOLD; http://www.genomesonline.org) is a comprehensive online resource to catalog and monitor genetic studies worldwide. GOLD provides up-to-date status on complete and ongoing sequencing projects along with a broad array of curated metadata. Within this paper, we report version 5 (v.5) of the database. The newly designed database schema and web user interface supports several new features including the implementation of a four level (meta)genome project classification system and a simplified intuitive web interface to access reports and launch search tools. The database currently hosts information for about 19 200 studies, 56 000 Biosamples, 56 000 sequencing projects and 39 400 analysis projects. More than just a catalog of worldwide genome projects, GOLD is a manually curated, quality-controlled metadata warehouse. The problems encountered in integrating disparate and varying quality data into GOLD are briefly highlighted. Lastly, GOLD fully supports and follows the Genomic Standards Consortium (GSC) Minimum Information standards.

  10. Biomass Gasification Research and Development Project

    Ahring, Birgitte K. [Washington State Univ., Pullman, WA (United States)

    2014-07-22

    The overall objective of the BioChemCat project was to demonstrate the feasibility of using Advanced Wet Oxidation Steam-Explosion (AWEx) process to open and solubilize lignocellulosic biomass (LBM) coupled to an innovative mixed culture fermentation technology capable of producing a wide range of volatile fatty acids (VFAs) from all sugars present in LBM. The VFAs will then be separated and converted to hydrocarbon biofuel through catalytic upgrading. By continuously removing VFAs as they are produced (extractive fermentation), we were able to recover the VFAs while both eliminating the need for pH adjustment and increasing the fermentation productivity. The recovered VFAs were then esterified and upgraded to hydrocarbon fuels through a parallel series of hydrogenolysis/decarboxylation and dehydration reactions. We also demonstrated that a portion of the residual lignin fraction was solubilized and converted into VFAs, also improving the yields of VFAs. The remaining lignin fraction was then shown to be available (after dewatering and drying) for use as a lignin-enriched fuel pellet or as a feedstock for further processing.

  11. Project Report: Undergraduate Student Research Program (USRP)

    Gavin, Patricia

    2011-01-01

    To better understand geochemical processes occurring on Europa's seafloor, we investigated the effects of varying Fe?content in the seafloor rock and varying temperature. Iron is important in such geochemical processes as the production of methane through serpentinization (e.g. Allen and Seyfried, 2003) and can be a nutrient for microbes (Russell and Hall, 2006; Park and Kim, 2001). It can also offer clues as to the state of differentiation of Europa's core/mantle. If Europa is fully differentiated and contains an iron core, we would expect there to be little iron in the mantle and ocean floor whereas a homogeneous Europa would have iron evenly dispersed throughout the ocean floor. Furthermore, the composition of the ocean is a result of water?rock interactions at the seafloor. This project investigated the effects of temperature on geochemical processes, comparing high temperature (> 250oC) hydrothermal vents (Kelley et al., 2001) to lower temperature (20oC) cold seeps (e.g. Orphan et al., 2002).

  12. Small Hydropower Research and Development Technology Project

    Blackmore, Mo [Near Space Systems, Inc.

    2013-12-06

    The objective of this work was to investigate, develop, and validate the next generation of small hydroturbine generator designs that maximize the energy transfer from flowing water to electrical power generation. What resulted from this effort was the design of a new technology hydroturbine that Near Space Systems (NSS) has named the Star*Stream© Hydroturbine. Using a design that eliminates nearly all of the shortfalls of conventional hydroturbines, the Star*Stream© Hydroturbine employs a new mechanical-to-electrical energy transfer hydro design that operates without lubrication of any kind, and does not introduce foreign chemicals or particulate matter from oil or drive shaft seal degradation into the hydro ecology. In its unique configuration, the Star*Stream© Hydroturbine is nearly environmentally inert, without the negative aspects caused by interrupting the ecological continuity, i.e., disruptions to sedimentation, water quality, habitat changes, human displacement, fish migration, etc., - while it ensures dramatically reduced timeframes to project completion. While a remarkable reduction in LCOE resulting from application of the Star*Stream© Hydroturbine technology has been the core achievement of the this effort, there have been numerous technological breakthroughs from the development effort.

  13. Biorefinery and Carbon Cycling Research Project

    Das, K. C., Adams; Thomas, T; Eiteman, Mark A; Kastner, James R; Mani, Sudhagar; Adolphson, Ryan

    2012-06-08

    In this project we focused on several aspects of technology development that advances the formation of an integrated biorefinery. These focus areas include: [ 1] pretreatment of biomass to enhance quality of products from thermochemical conversion; [2] characterization of and development of coproduct uses; [3] advancement in fermentation of lignocellulosics and particularly C5 and C6 sugars simultaneously, and [ 4] development of algal biomass as a potential substrate for the biorefinery. These advancements are intended to provide a diverse set of product choices within the biorefinery, thus improving the cost effectiveness of the system. Technical effectiveness was demonstrated in the thermochemical product quality in the form of lower tar production, simultaneous of use of multiple sugars in fermentation, use ofbiochar in environmental (ammonia adsorption) and agricultural applications, and production of algal biomass in wastewaters. Economic feasibility of algal biomass production systems seems attractive, relative to the other options. However, further optimization in all paths, and testing/demonstration at larger scales are required to fully understand the economic viabilities. The coproducts provide a clear picture that multiple streams of value can be generated within an integrated biorefinery, and these include fuels and products.

  14. The Medline/full-text research project.

    McKinin, E J; Sievert, M; Johnson, E D; Mitchell, J A

    1991-05-01

    This project was designed to test the relative efficacy of index terms and full-text for the retrieval of documents in those MEDLINE journals for which full-text searching was also available. The full-text files used were MEDIS from Mead Data Central and CCML from BRS Information Technologies. One hundred clinical medical topics were searched in these two files as well as the MEDLINE file to accumulate the necessary data. It was found that full-text identified significantly more relevant articles than did the indexed file, MEDLINE. The full-text searches, however, lacked the precision of searches done in the indexed file. Most relevant items missed in the full-text files, but identified in MEDLINE, were missed because the searcher failed to account for some aspect of natural language, used a logical or positional operator that was too restrictive, or included a concept which was implied, but not expressed in the natural language. Very few of the unique relevant full-text citations would have been retrieved by title or abstract alone. Finally, as of July, 1990 the more current issue of a journal was just as likely to appear in MEDLINE as in one of the full-text files.

  15. Stakeholders in psychiatry and their attitudes toward receiving pertinent and incident findings in genomic research

    Sundby, Anna; Boolsen, Merete Watt; Burgdorf, Kristoffer Solvsten

    2017-01-01

    potential research participants and health professionals toward receiving pertinent and incidental findings. A cross-sectional online survey was developed to investigate the attitudes among research participants toward receiving genomic findings. A total of 2,637 stakeholders responded: 241 persons...... and information that is not of serious health importance. Psychiatrists and clinical geneticists were less positive about receiving genomic findings compared with blood donors. The attitudes toward receiving findings were very positive. Stakeholders were willing to refrain from receiving incidental information......Increasingly more psychiatric research studies use whole genome sequencing or whole exome sequencing. Consequently, researchers face difficult questions, such as which genomic findings to return to research participants and how. This study aims to gain more knowledge on the attitudes among...

  16. Cloning, production, and purification of proteins for a medium-scale structural genomics project.

    Quevillon-Cheruel, Sophie; Collinet, Bruno; Trésaugues, Lionel; Minard, Philippe; Henckes, Gilles; Aufrère, Robert; Blondeau, Karine; Zhou, Cong-Zhao; Liger, Dominique; Bettache, Nabila; Poupon, Anne; Aboulfath, Ilham; Leulliot, Nicolas; Janin, Joël; van Tilbeurgh, Herman

    2007-01-01

    The South-Paris Yeast Structural Genomics Pilot Project (http://www.genomics.eu.org) aims at systematically expressing, purifying, and determining the three-dimensional structures of Saccharomyces cerevisiae proteins. We have already cloned 240 yeast open reading frames in the Escherichia coli pET system. Eighty-two percent of the targets can be expressed in E. coli, and 61% yield soluble protein. We have currently purified 58 proteins. Twelve X-ray structures have been solved, six are in progress, and six other proteins gave crystals. In this chapter, we present the general experimental flowchart applied for this project. One of the main difficulties encountered in this pilot project was the low solubility of a great number of target proteins. We have developed parallel strategies to recover these proteins from inclusion bodies, including refolding, coexpression with chaperones, and an in vitro expression system. A limited proteolysis protocol, developed to localize flexible regions in proteins that could hinder crystallization, is also described.

  17. Genome3D: a UK collaborative project to annotate genomic sequences with predicted 3D structures based on SCOP and CATH domains.

    Lewis, Tony E; Sillitoe, Ian; Andreeva, Antonina; Blundell, Tom L; Buchan, Daniel W A; Chothia, Cyrus; Cuff, Alison; Dana, Jose M; Filippis, Ioannis; Gough, Julian; Hunter, Sarah; Jones, David T; Kelley, Lawrence A; Kleywegt, Gerard J; Minneci, Federico; Mitchell, Alex; Murzin, Alexey G; Ochoa-Montaño, Bernardo; Rackham, Owen J L; Smith, James; Sternberg, Michael J E; Velankar, Sameer; Yeats, Corin; Orengo, Christine

    2013-01-01

    Genome3D, available at http://www.genome3d.eu, is a new collaborative project that integrates UK-based structural resources to provide a unique perspective on sequence-structure-function relationships. Leading structure prediction resources (DomSerf, FUGUE, Gene3D, pDomTHREADER, Phyre and SUPERFAMILY) provide annotations for UniProt sequences to indicate the locations of structural domains (structural annotations) and their 3D structures (structural models). Structural annotations and 3D model predictions are currently available for three model genomes (Homo sapiens, E. coli and baker's yeast), and the project will extend to other genomes in the near future. As these resources exploit different strategies for predicting structures, the main aim of Genome3D is to enable comparisons between all the resources so that biologists can see where predictions agree and are therefore more trusted. Furthermore, as these methods differ in whether they build their predictions using CATH or SCOP, Genome3D also contains the first official mapping between these two databases. This has identified pairs of similar superfamilies from the two resources at various degrees of consensus (532 bronze pairs, 527 silver pairs and 370 gold pairs).

  18. A Virtual Research Infrastructure for Genome and Lisa Research in Europe.

    Alexander Beck-Ratzka; T.A. Knoch (Tobias)

    2010-01-01

    textabstractIn VWCISC we propose a unique working and collaboration environment for international scientific communities. Science is increasingly collaborative at an international level, which enables projects to build teams of specialists best suited to the goals of the research effort, but which

  19. Human-Robot Interaction Directed Research Project

    Rochlis, Jennifer; Ezer, Neta; Sandor, Aniko

    2011-01-01

    Human-robot interaction (HRI) is about understanding and shaping the interactions between humans and robots (Goodrich & Schultz, 2007). It is important to evaluate how the design of interfaces and command modalities affect the human s ability to perform tasks accurately, efficiently, and effectively (Crandall, Goodrich, Olsen Jr., & Nielsen, 2005) It is also critical to evaluate the effects of human-robot interfaces and command modalities on operator mental workload (Sheridan, 1992) and situation awareness (Endsley, Bolt , & Jones, 2003). By understanding the effects of interface design on human performance, workload, and situation awareness, interfaces can be developed that support the human in performing tasks with minimal errors and with appropriate interaction time and effort. Thus, the results of research on human-robot interfaces have direct implications for design. Because the factors associated with interfaces and command modalities in HRI are too numerous to address in 3 years of research, the proposed research concentrates on three manageable areas applicable to National Aeronautics and Space Administration (NASA) robot systems. These topic areas emerged from the Fiscal Year (FY) 2011 work that included extensive literature reviews and observations of NASA systems. The three topic areas are: 1) video overlays, 2) camera views, and 3) command modalities. Each area is described in detail below, along with relevance to existing NASA human-robot systems. In addition to studies in these three topic areas, a workshop is proposed for FY12. The workshop will bring together experts in human-robot interaction and robotics to discuss the state of the practice as applicable to research in space robotics. Studies proposed in the area of video overlays consider two factors in the implementation of augmented reality (AR) for operator displays during teleoperation. The first of these factors is the type of navigational guidance provided by AR symbology. In the proposed

  20. Experiences with project-oriented research in graduate engineering education

    Miley, G.H.

    1976-01-01

    Two examples of project-oriented research that involve the conceptual design of fusion systems are described. One of these projects involved close collaboration with workers in a national laboratory while the second was formally organized as a cooperative effort with two other laboratories. An important educational aspect of such research is that the students are involved in a design team composed of both students and professionals facing a realistic problem. In retrospect, it appears that both students and faculty profited from the experience. Several students have taken jobs in related areas, and additional research has resulted at the University from new insight gained during the projects

  1. IAU Project and Research Activity in Nepal

    Gautam, Suman

    2015-08-01

    The second half of the twentieth century has witnessed a tremendous development in the field of astronomy and space exploration. The large telescope both on the land and in the orbit, using the whole range of the electromagnetic spectra from radio waves to gamma rays are extending their range of exploration, right to the edge of the observable universe, and making astounding discoveries in the process. Many large international telescope facilities and global plans are accessible to all astronomers throughout the world, providing an inexpensive entry to cutting- edge international research for developing countries.Nepal is a mountainous country it has a wide range of climatic and altitude variations which varies from an elevation of 200 meter to ≥ 4000 meter. The average temperature varies from ≥ 25 o C to ≤ 0 to 5oC. Because of these diverse weather and climatic variation there is the potential for the establishment of sophisticated observatory/ data centre and link with each other. So, the future possible opportunity of astronomy in Nepal will be discussed. Besides Education and Research activities conducted in Tribhuvan University, Nepal under the support of International Astronomical Union (IAU) will also be highlighted. The importance brought by those two workshops conducted on data simulation supported by IAU under TF1 will also be discussed which is believed to play a vital role for the promotion and development of astronomy and astrophysics in developing countries.

  2. Research project: "Promotion of optimum brain ageing"

    IT Department

    2009-01-01

    The Rehabilitation and Geriatrics Department of the Geneva University Hospitals (HUG) has signed a research protocol with CERN with a view to promoting better understanding of the mechanisms that trigger Alzheimer’s disease. Alzheimer’s disease is a form of dementia associated with memory loss, inability to make plans and spatial disorientation. With 24 million sufferers worldwide at present, a figure that is predicted to rise to 29 million by 2020, it represents a major challenge for the coming decades. Prevention is a key factor in slowing the alarming spread of this disease. Delaying the onset of the disease could reduce the total number of cases by 50%. Why CERN? CERN is an international research organisation with a workforce that is predominantly male (a section of the population that has been little studied so far) and has a high level of education. Moreover, its pensioners are easy to reach since the majority live in the Geneva area. The aim of the study is to ev...

  3. Attitudes of stakeholders in psychiatry towards the inclusion of children in genomic research.

    Sundby, Anna; Boolsen, Merete Watt; Burgdorf, Kristoffer Sølvsten; Ullum, Henrik; Hansen, Thomas Folkmann; Mors, Ole

    2018-03-05

    Genomic sequencing of children in research raises complex ethical issues. This study aims to gain more knowledge on the attitudes towards the inclusion of children as research subjects in genomic research and towards the disclosure of pertinent and incidental findings to the parents and the child. Qualitative data were collected from interviews with a wide range of informants: experts engaged in genomic research, clinical geneticists, persons with mental disorders, relatives, and blood donors. Quantitative data were collected from a cross-sectional web-based survey among 1227 parents and 1406 non-parents who were potential stakeholders in psychiatric genomic research. Participants generally expressed positive views on children's participation in genomic research. The informants in the qualitative interviews highlighted the age of the child as a critical aspect when disclosing genetic information. Other important aspects were the child's right to an autonomous choice, the emotional burden of knowing imposed on both the child and the parents, and the possibility of receiving beneficial clinical information regarding the future health of the child. Nevertheless, there was no consensus whether the parent or the child should receive the findings. A majority of survey stakeholders agreed that children should be able to participate in genomic research. The majority agreed that both pertinent and incidental findings should be returned to the parents and to the child when of legal age. Having children does not affect the stakeholder's attitudes towards the inclusion of children as research subjects in genomic research. Our findings illustrate that both the child's right to autonomy and the parents' interest to be informed are important factors that are found valuable by the participants. In future guidelines governing children as subjects in genomic research, it would thus be essential to incorporate the child's right to an open future, including the right to receive

  4. Genomes

    Brown, T. A. (Terence A.)

    2002-01-01

    ... of genome expression and replication processes, and transcriptomics and proteomics. This text is richly illustrated with clear, easy-to-follow, full color diagrams, which are downloadable from the book's website...

  5. Energy research information system projects report, volume 5, number 1

    Johnson, J.; Schillinger, L.

    1980-07-01

    The system (ERIS) provides an inventory of the energy related programs and research activities from 1974 to the present in the states of Montana, Nebraska, North Dakota, South Dakota and Wyoming. Areas of research covered include coal, reclamation, water resources, environmental impacts, socioeconomic impacts, energy conversion, mining methodology, petroleum, natural gas, oilshale, renewable energy resources, nuclear energy, energy conservation and land use. Each project description lists title, investigator(s), research institution, sponsor, funding, time frame, location, a descriptive abstract of the research and title reports and/or publications generated by the research. All projects are indexed by location, personal names, organizations and subject keywords.

  6. Pathways over Time: Functional Genomics Research in an Introductory Laboratory Course.

    Reeves, Todd D; Warner, Douglas M; Ludlow, Larry H; O'Connor, Clare M

    2018-01-01

    National reports have called for the introduction of research experiences throughout the undergraduate curriculum, but practical implementation at many institutions faces challenges associated with sustainability, cost, and large student populations. We describe a novel course-based undergraduate research experience (CURE) that introduces introductory-level students to research in functional genomics in a 3-credit, multisection laboratory class. In the Pathways over Time class project, students study the functional conservation of the methionine biosynthetic pathway between divergent yeast species. Over the five semesters described in this study, students ( N = 793) showed statistically significant and sizable growth in content knowledge ( d = 1.85) and in self-reported research methods skills ( d = 0.65), experimental design, oral and written communication, database use, and collaboration. Statistical analyses indicated that content knowledge growth was larger for underrepresented minority students and that growth in content knowledge, but not research skills, varied by course section. Our findings add to the growing body of evidence that CUREs can support the scientific development of large numbers of students with diverse characteristics. The Pathways over Time project is designed to be sustainable and readily adapted to other institutional settings. © 2018 T. D. Reeves et al. CBE—Life Sciences Education © 2018 The American Society for Cell Biology. This article is distributed by The American Society for Cell Biology under license from the author(s). It is available to the public under an Attribution–Noncommercial–Share Alike 3.0 Unported Creative Commons License (http://creativecommons.org/licenses/by-nc-sa/3.0).

  7. The IT project manager competencies that impact project success – A qualitative research

    Cíntia Cristina Silva de Araújo

    2015-07-01

    Full Text Available Since there is a lack of studies about the relationship of IT project manager competencies and project success, this paper will address the following research question: Which competencies should IT project managers develop in order to achieve success in IT projects? To answer this question, we conducted a qualitative research with an exploratory approach. To collect data, twelve (12 in-depth interviews were done with Brazilian project managers from different companies from several business sectors. The analysis results pointed out that for our respondents the most needed category of competencies are team management, business domain knowledge,  communication, project management and people skills. As other authors have affirmed, technical skills were considered to be less relevant to project success than interpersonal and intrapersonal competencies.

  8. Final Project Report Load Modeling Transmission Research

    Lesieutre, Bernard [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Bravo, Richard [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Yinger, Robert [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Chassin, Dave [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Huang, Henry [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Lu, Ning [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Hiskens, Ian [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Venkataramanan, Giri [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)

    2012-03-31

    The research presented in this report primarily focuses on improving power system load models to better represent their impact on system behavior. The previous standard load model fails to capture the delayed voltage recovery events that are observed in the Southwest and elsewhere. These events are attributed to stalled air conditioner units after a fault. To gain a better understanding of their role in these events and to guide modeling efforts, typical air conditioner units were testing in laboratories. Using data obtained from these extensive tests, new load models were developed to match air conditioner behavior. An air conditioner model is incorporated in the new WECC composite load model. These models are used in dynamic studies of the West and can impact power transfer limits for California. Unit-level and systemlevel solutions are proposed as potential solutions to the delayed voltage recovery problem.

  9. Valuing of research project in energy field with real options

    De Blasio, N.; Marzo, G.; Turatto, R.

    2008-01-01

    This article presents an application of real options theory for valuing a research project in the field of stranded gas valorisation. After a presentation of the theory, the analysis addresses the use of real options evaluation for generating alternative pathways in order to add new value to the R D projects. It also shows how real option approach may be important for selecting among competitive projects, but also for providing a system for valorisation of decision-maker flexibility [it

  10. The Research of Stakeholder Power Impact on Project Implementation

    Artur Biskupek

    2016-12-01

    Full Text Available Purpose of the article: The article show summarized information about stakeholders and their role in project implementation based on literature review. The second part of the article is dedicated for the research about stakeholder influence on project implementation. The only condition to participate in the survey was managing projects. Although the respondents are employed in the area of south Poland, they implement projects all over Poland. The research tool was a questionnaire which was sent by e-mail to the respondents. 90 project managers from the area of south Poland were invited to join the project, and 62 people sent back a completed questionnaire. Methodology/methods: The research was done by a questionnaire with twenty two question, which was divided into three parts. The first part was the imprint, which consisted of three questions. The second part consisted of two questions, which concerned the way of defining the word “stakeholder”. The third part concerned the topic of the research and consisted of seventeen questions. Scientific aim: The aim of the article is presenting the results of the research which was done, to show the research results of project stakeholder influence on the project implementation. Findings: The results received from the survey in the process of analysis and interpretation allow to put forward a thesis that stakeholders as a whole group are significant for the implementation of the whole project. Their impact is so important that it is possible to tell that they decide also about the project success or failure. Conclusions: The respondents show that stakeholders affect every area in large extent or very big extent. The fact has been proved in table 1 which shows the most frequently chosen answers by responders. However, by conducted analysis by the standard deviation it is possible to see a large dispersion of the results.

  11. Water Resources Research Grant Program project descriptions, fiscal year 1987

    ,

    1987-01-01

    This report contains information on the 34 new projects funded by the United States Geological Survey 's Water Resources Research Grant Program in fiscal year 1987 and on 3 projects completed during the year. For the new projects, the report gives the grant number, project title, performing organization, principal investigator(s), and a project description that includes: (1) identification of water related problems and problem-solution approach (2) contribution to problem solution, (3) objectives, and (4) approach. The 34 projects include 12 in the area of groundwater quality problems, 12 in the science and technology of water quality management, 1 in climate variability and the hydrologic cycle, 4 in institutional change in water resources management, and 5 in surface water management. For the three completed projects, the report furnishes the grant number; project title; performing organization; principal investor(s); starting data; data of receipt of final report; and an abstract of the final report. Each project description provides the information needed to obtain a copy of the final report. The report contains tables showing: (1) proposals received according to area of research interest, (2) grant awards and funding according to area of research interest, (3) proposals received according to type of submitting organization, and (4) awards and funding according to type of organization. (Author 's abstract)

  12. Community-researcher liaisons: the Pathways to Resilience Project ...

    The Pathways to Resilience Project is an ongoing, community-based participatory research (CBPR) project. Its express focus is the exploration of how at-risk youths use formal services and/or informal, naturally occurring resources to beat the odds that have been stacked against them, with the intent of partnering with ...

  13. Systems Engineering Applications for Small Business Innovative Research (SBIR) Projects

    2012-09-01

    Engineering processes within the SBIR community. Information was collected from multiple organizations throughout the SBIR community to support this research...Force by Program Executive Officers, Technolgy Directorates, Air Logistics Centers and Test Centers. SBIR projects are developed in three phases...found to be associated with SBIR projects and varied among organizations. Thus it became essential to conduct interviews to gather the information

  14. Childhood Obesity Research Demonstration project: Cross-site evaluation method

    The Childhood Obesity Research Demonstration (CORD) project links public health and primary care interventions in three projects described in detail in accompanying articles in this issue of Childhood Obesity. This article describes a comprehensive evaluation plan to determine the extent to which th...

  15. Research projects and capacity building | Breen | Water SA

    ... by capacity building in the context of research projects. Based on this interpretation, reasonable and unreasonable expectations with respect to the extent to which capacity building can be achieved within a given project duration are discussed. A model is suggested, which would improve understanding and delivery and ...

  16. An Applied Project-Driven Approach to Undergraduate Research Experiences

    Karls, Michael A.

    2017-01-01

    In this paper I will outline the process I have developed for conducting applied mathematics research with undergraduates and give some examples of the projects we have worked on. Several of these projects have led to refereed publications that could be used to illustrate topics taught in the undergraduate curriculum.

  17. Using design science in educational technology research projects

    Susan M. Chard

    2017-12-01

    Full Text Available Design science is a research paradigm where the development and evaluation of a technology artefact is a key contribution. Design science is used in many domains and this paper draws on those domains to formulate a generic structure for design science research suitable for educational technology research projects. The paper includes guidelines for writing proposals using the design science research methodology for educational technology research and presents a generic research report structure. The paper presents ethical issues to consider in design science research being conducted in educational settings and contributes guidelines for assessment when the research contribution involves the creation of a technology artefact.

  18. The Health Information Literacy Research Project*

    Kurtz-Rossi, Sabrina; Funk, Carla J.

    2009-01-01

    Objectives: This research studied hospital administrators' and hospital-based health care providers' (collectively, the target group) perceived value of consumer health information resources and of librarians' roles in promoting health information literacy in their institutions. Methods: A web-based needs survey was developed and administered to hospital administrators and health care providers. Multiple health information literacy curricula were developed. One was pilot-tested by nine hospital libraries in the United States and Canada. Quantitative and qualitative methods were used to evaluate the curriculum and its impact on the target group. Results: A majority of survey respondents believed that providing consumer health information resources was critically important to fulfilling their institutions' missions and that their hospitals could improve health information literacy by increasing awareness of its impact on patient care and by training staff to become more knowledgeable about health literacy barriers. The study showed that a librarian-taught health information literacy curriculum did raise awareness about the issue among the target group and increased both the use of National Library of Medicine consumer health resources and referrals to librarians for health information literacy support. Conclusions: It is hoped that many hospital administrators and health care providers will take the health information literacy curricula and recognize that librarians can educate about the topic and that providers will use related consumer health services and resources. PMID:19851494

  19. Progress Report of the Schools Television Research Project--III

    Kemelfield, Graeme

    1969-01-01

    "This concluding article provides the first published account of a series of psychological experiments which are presently being undertaken by the Schools Television Research Project, examining presentation factors in instructional television. (Editor)

  20. Tunnel Boring Machine for nuclear waste repository research project

    Janzon, H.A.

    1994-01-01

    A description is presented of a Tunnel Boring Machine and its intended use on a research project underway in Sweden for demonstrating and testing methods for rock investigation at a suitable depth for a deep repository for nuclear waste

  1. Evaluation of the Treatment of Diabetic Retinopathy A Research Project

    Kupfer, Carl

    1973-01-01

    Evaluated is the treatment of diabetic retinopathy (blindness due to ruptured vessels of the retina as a side effect of diabetes), and described is a research project comparing two types of photocoagulation treatment. (DB)

  2. Advanced Research Projects Agency on Materials Preparation and Characterization Research

    Briefly summarized is research concerned with such topics as: Preparation of silica glass from amorphous silica; Glass structure by Raman ...ferroelectrics; Silver iodide crystals; Vapor phase growth; Refractory optical host materials; Hydroxyapatite ; Calcite; Characterization of single crystals with a double crystal spectrometer; Characterization of residual strain.

  3. My sister's keeper?: genomic research and the identifiability of siblings

    Kohane Isaac S

    2008-07-01

    Full Text Available Abstract Background Genomic sequencing of SNPs is increasingly prevalent, though the amount of familial information these data contain has not been quantified. Methods We provide a framework for measuring the risk to siblings of a patient's SNP genotype disclosure, and demonstrate that sibling SNP genotypes can be inferred with substantial accuracy. Results Extending this inference technique, we determine that a very low number of matches at commonly varying SNPs is sufficient to confirm sib-ship, demonstrating that published sequence data can reliably be used to derive sibling identities. Using HapMap trio data, at SNPs where one child is homozygotic major, with a minor allele frequency ≤ 0.20, (N = 452684, 65.1% we achieve 91.9% inference accuracy for sibling genotypes. Conclusion These findings demonstrate that substantial discrimination and privacy risks arise from use of inferred familial genomic data.

  4. Rabbit models for biomedical research revisited via genome editing approaches

    HONDA, Arata; OGURA, Atsuo

    2017-01-01

    Although the laboratory rabbit has long contributed to many paradigmatic studies in biology and medicine, it is often considered to be a “classical animal model” because in the last 30 years, the laboratory mouse has been more often used, thanks to the availability of embryonic stem cells that have allowed the generation of gene knockout (KO) animals. However, recent genome-editing strategies have changed this unrivaled condition; so far, more than 10 mammalian species have been added to the ...

  5. GRAbB: Selective Assembly of Genomic Regions, a New Niche for Genomic Research.

    Balázs Brankovics

    2016-06-01

    Full Text Available GRAbB (Genomic Region Assembly by Baiting is a new program that is dedicated to assemble specific genomic regions from NGS data. This approach is especially useful when dealing with multi copy regions, such as mitochondrial genome and the rDNA repeat region, parts of the genome that are often neglected or poorly assembled, although they contain interesting information from phylogenetic or epidemiologic perspectives, but also single copy regions can be assembled. The program is capable of targeting multiple regions within a single run. Furthermore, GRAbB can be used to extract specific loci from NGS data, based on homology, like sequences that are used for barcoding. To make the assembly specific, a known part of the region, such as the sequence of a PCR amplicon or a homologous sequence from a related species must be specified. By assembling only the region of interest, the assembly process is computationally much less demanding and may lead to assemblies of better quality. In this study the different applications and functionalities of the program are demonstrated such as: exhaustive assembly (rDNA region and mitochondrial genome, extracting homologous regions or genes (IGS, RPB1, RPB2 and TEF1a, as well as extracting multiple regions within a single run. The program is also compared with MITObim, which is meant for the exhaustive assembly of a single target based on a similar query sequence. GRAbB is shown to be more efficient than MITObim in terms of speed, memory and disk usage. The other functionalities (handling multiple targets simultaneously and extracting homologous regions of the new program are not matched by other programs. The program is available with explanatory documentation at https://github.com/b-brankovics/grabb. GRAbB has been tested on Ubuntu (12.04 and 14.04, Fedora (23, CentOS (7.1.1503 and Mac OS X (10.7. Furthermore, GRAbB is available as a docker repository: brankovics/grabb (https://hub.docker.com/r/brankovics/grabb/.

  6. Crowdfunding Campaigns Help Researchers Launch Projects and Generate Outreach.

    Dahlhausen, Katherine; Krebs, Bethany L; Watters, Jason V; Ganz, Holly H

    2016-03-01

    Organizers of participatory research (citizen science) projects can generate funds and outreach through crowdfunding. Here we provide insights from three successful science crowdfunding campaigns recently completed on Indiegogo, Experiment, and Kickstarter. Choosing a crowdfunding platform that fits the project is just the beginning; a successful campaign reflects its content, management, and marketing, and some researchers may need to acquire new skills. In addition, the growing trend of crowdfunding for science reinforces the importance of academic engagement with social media.

  7. Crowdfunding Campaigns Help Researchers Launch Projects and Generate Outreach

    Katherine Dahlhausen

    2015-11-01

    Full Text Available Organizers of participatory research (citizen science projects can generate funds and outreach through crowdfunding. Here we provide insights from three successful science crowdfunding campaigns recently completed on Indiegogo, Experiment, and Kickstarter. Choosing a crowdfunding platform that fits the project is just the beginning; a successful campaign reflects its content, management, and marketing, and some researchers may need to acquire new skills. In addition, the growing trend of crowdfunding for science reinforces the importance of academic engagement with social media.

  8. Radiological safety research for nuclear excavation projects - Interoceanic canal studies

    Klement, A.W. Jr.

    1969-01-01

    The general radiological problems encountered in nuclear cratering and nuclear excavation projects are discussed. Procedures for assessing radiological problems in such projects are outlined. Included in the discussions are source term, meteorology, fallout prediction and ecological factors. Continuing research requirements as well as pre- and post-excavation studies are important considerations. The procedures followed in the current interoceanic canal feasibility studies provide examples of radiological safety problems, current solutions and needed research. (author)

  9. Radiological safety research for nuclear excavation projects - Interoceanic canal studies

    Klement, Jr, A W [U.S. Atomic Energy Commission, Las Vegas, NV (United States)

    1969-07-01

    The general radiological problems encountered in nuclear cratering and nuclear excavation projects are discussed. Procedures for assessing radiological problems in such projects are outlined. Included in the discussions are source term, meteorology, fallout prediction and ecological factors. Continuing research requirements as well as pre- and post-excavation studies are important considerations. The procedures followed in the current interoceanic canal feasibility studies provide examples of radiological safety problems, current solutions and needed research. (author)

  10. United States Crystalline Repository Project - key research areas

    Patera, E.S.

    1986-01-01

    The Crystalline Repository Project is responsible for siting the second high-level nuclear waste repository in crystalline rock for the US Department of Energy. A methodology is being developed to define data and information needs and a way to evaluate that information. The areas of research the Crystalline Repository Project is involved in include fluid flow in a fractured network, coupled thermal, chemical and flow processes and cooperation in other nations and OECD research programs

  11. The relation between project management education and newer streams in project management research

    Leimbach, Timo; Goodall, Julie Bladt

    2017-01-01

    In the last decades, research in project management (PM) has experienced significant new inputs from a range of new PM methodologies and critical research streams. As a consequence, members of the more critical streams have called for the education of project managers to advance from that of trai......In the last decades, research in project management (PM) has experienced significant new inputs from a range of new PM methodologies and critical research streams. As a consequence, members of the more critical streams have called for the education of project managers to advance from...... that of training technicians, to fostering reflective practitioners that are better equipped to handle the increasing complexity of the profession. This paper is based on a recently commenced re-search project titled "Rethinking Project Management Education – the Role of Universities" that is aimed at analysing...... how the development of PM research is reflected in the education of project managers. On the basis of a short overview of the state of the art of PM education research and practices, the possible challenges for the development of PM education are discussed, and, finding that there is a lack...

  12. Research capacity building integrated into PHIT projects: leveraging research and research funding to build national capacity.

    Hedt-Gauthier, Bethany L; Chilengi, Roma; Jackson, Elizabeth; Michel, Cathy; Napua, Manuel; Odhiambo, Jackline; Bawah, Ayaga

    2017-12-21

    Inadequate research capacity impedes the development of evidence-based health programming in sub-Saharan Africa. However, funding for research capacity building (RCB) is often insufficient and restricted, limiting institutions' ability to address current RCB needs. The Doris Duke Charitable Foundation's African Health Initiative (AHI) funded Population Health Implementation and Training (PHIT) partnership projects in five African countries (Ghana, Mozambique, Rwanda, Tanzania and Zambia) to implement health systems strengthening initiatives inclusive of RCB. Using Cooke's framework for RCB, RCB activity leaders from each country reported on RCB priorities, activities, program metrics, ongoing challenges and solutions. These were synthesized by the authorship team, identifying common challenges and lessons learned. For most countries, each of the RCB domains from Cooke's framework was a high priority. In about half of the countries, domain specific activities happened prior to PHIT. During PHIT, specific RCB activities varied across countries. However, all five countries used AHI funding to improve research administrative support and infrastructure, implement research trainings and support mentorship activities and research dissemination. While outcomes data were not systematically collected, countries reported holding 54 research trainings, forming 56 mentor-mentee relationships, training 201 individuals and awarding 22 PhD and Masters-level scholarships. Over the 5 years, 116 manuscripts were developed. Of the 59 manuscripts published in peer-reviewed journals, 29 had national first authors and 18 had national senior authors. Trainees participated in 99 conferences and projects held 37 forums with policy makers to facilitate research translation into policy. All five PHIT projects strongly reported an increase in RCB activities and commended the Doris Duke Charitable Foundation for prioritizing RCB, funding RCB at adequate levels and time frames and for allowing

  13. The European Renal Genome Project: An Integrated Approach Towards Understanding the Genetics of Kidney Development and Disease

    Willnow, TE; Antignac, C; Brändli, AW; Christensen, EI; Cox, RD; Davidson, D; Davies, JA; Devuyst, O; Eichele, G; Hastie, ND; Verroust, PJ; Schedl, A; Meij, IC

    2005-01-01

    Rapid progress in genome research creates a wealth of information on the functional annotation of mammalian genome sequences. However, as we accumulate large amounts of scientific information we are facing problems of how to integrate and relate the data produced by various genomic approaches. Here, we propose the novel concept of an organ atlas where diverse data from expression maps to histological findings to mutant phenotypes can be queried, compared and visualized in the context of a thr...

  14. 7 CFR 932.45 - Production research and marketing research and development projects.

    2010-01-01

    ... 7 Agriculture 8 2010-01-01 2010-01-01 false Production research and marketing research and....45 Production research and marketing research and development projects. (a) The following activities... Secretary, establish or provide for the establishment of production research, and marketing research and...

  15. Human-Robot Interaction Directed Research Project

    Sandor, Aniko; Cross, Ernest V., II; Chang, Mai Lee

    2014-01-01

    Human-robot interaction (HRI) is a discipline investigating the factors affecting the interactions between humans and robots. It is important to evaluate how the design of interfaces and command modalities affect the human's ability to perform tasks accurately, efficiently, and effectively when working with a robot. By understanding the effects of interface design on human performance, workload, and situation awareness, interfaces can be developed to appropriately support the human in performing tasks with minimal errors and with appropriate interaction time and effort. Thus, the results of research on human-robot interfaces have direct implications for the design of robotic systems. This DRP concentrates on three areas associated with interfaces and command modalities in HRI which are applicable to NASA robot systems: 1) Video Overlays, 2) Camera Views, and 3) Command Modalities. The first study focused on video overlays that investigated how Augmented Reality (AR) symbology can be added to the human-robot interface to improve teleoperation performance. Three types of AR symbology were explored in this study, command guidance (CG), situation guidance (SG), and both (SCG). CG symbology gives operators explicit instructions on what commands to input, whereas SG symbology gives operators implicit cues so that operators can infer the input commands. The combination of CG and SG provided operators with explicit and implicit cues allowing the operator to choose which symbology to utilize. The objective of the study was to understand how AR symbology affects the human operator's ability to align a robot arm to a target using a flight stick and the ability to allocate attention between the symbology and external views of the world. The study evaluated the effects type of symbology (CG and SG) has on operator tasks performance and attention allocation during teleoperation of a robot arm. The second study expanded on the first study by evaluating the effects of the type of

  16. Using Social Media for Research Dissemination: The Digital Research Video Project

    Suzanne Pilaar Birch

    2013-09-01

    Full Text Available This article discusses the outcomes of the Digital Research Video Project, which was part of the larger Social Media Knowledge Exchange program at the Centre for Research in the Arts, Social Sciences, and Humanities (CRASSH at the University of Cambridge and funded by the Arts & Humanities Research Council (UK. The project was founded on the premise that open access publication of research, while important, does not necessarily make research accessible. Often, PhD students and post-doctoral scholars lack the skills needed to communicate their research to a broader audience. The goal of the project was, first, to provide communication training to early career researchers (achieved through a workshop held in autumn 2012 and second, to create illustrated videos highlighting projects by early career researchers that would help them engage with their work using multimedia and share their results with a larger audience. This article considers the methods of dissemination and impact of the project.

  17. Needs assessment in health research projects: a new approach to project management in iran.

    Peykari, Niloofar; Owlia, Parviz; Malekafzali, Hossein; Ghanei, Mostafa; Babamahmoodi, Abdolreza; Djalalinia, Shirin

    2013-01-01

    The science and technology health plan has defined the outline of health research to the national vision of Iran by 2025. The aim of this study was to focus on the process of needs assessment of health research projects also health research priority setting in Iran. THE PROJECT MANAGEMENT LIFE CYCLE HAS FOUR PHASES: Initiation, Planning, Execution and Closure. Based on abovementioned points we conducted the study. Focusing on the needs assessment led to systematic implementation of needs assessment of health project in all of the medical sciences universities. Parallel with this achieved strategies health research priority setting was followed through specific process from empowerment to implementation. We should adopt with more systematic progressive methods of health project managements for both our national convenience as well as our international health research programs.

  18. A haplotype regression approach for genetic evaluation using sequences from the 1000 bull genomes Project

    Lakhssassi, K.; González-Recio, O.

    2017-01-01

    Haplotypes from sequencing data may improve the prediction accuracy in genomic evaluations as haplotypes are in stronger linkage disequilibrium with quantitative trait loci than markers from SNP chips. This study focuses first, on the creation of haplotypes in a population sample of 450 Holstein animals, with full-sequence data from the 1000 bull genomes project; and second, on incorporating them into the whole genome prediction model. In total, 38,319,258 SNPs (and indels) from Next Generation Sequencing were included in the analysis. After filtering variants with minor allele frequency (MAF< 0.025) 13,912,326 SNPs were available for the haplotypes extraction with findhap.f90. The number of SNPs in the haploblocks was on average 924 SNP (166,552 bp). Unique haplotypes were around 97% in all chromosomes and were ignored leaving 153,428 haplotypes. Estimated haplotypes had a large contribution to the total variance of genomic estimated breeding values for kilogram of protein, Global Type Index, Somatic Cell Score and Days Open (between 32 and 99.9%). Haploblocks containing haplotypes with large effects were selected by filtering for each trait, haplotypes whose effect was larger/lower than the mean plus/minus 3 times the standard deviation (SD) and 1 SD above the mean of the haplotypes effect distribution. Results showed that filtering by 3 SD would not be enough to capture a large proportion of genetic variance, whereas filtering by 1 SD could be useful but model convergence should be considered. Additionally, sequence haplotypes were able to capture additional genetic variance to the polygenic effect for traits undergoing lower selection intensity like fertility and health traits.

  19. A haplotype regression approach for genetic evaluation using sequences from the 1000 bull genomes Project

    Lakhssassi, K.; González-Recio, O.

    2017-07-01

    Haplotypes from sequencing data may improve the prediction accuracy in genomic evaluations as haplotypes are in stronger linkage disequilibrium with quantitative trait loci than markers from SNP chips. This study focuses first, on the creation of haplotypes in a population sample of 450 Holstein animals, with full-sequence data from the 1000 bull genomes project; and second, on incorporating them into the whole genome prediction model. In total, 38,319,258 SNPs (and indels) from Next Generation Sequencing were included in the analysis. After filtering variants with minor allele frequency (MAF< 0.025) 13,912,326 SNPs were available for the haplotypes extraction with findhap.f90. The number of SNPs in the haploblocks was on average 924 SNP (166,552 bp). Unique haplotypes were around 97% in all chromosomes and were ignored leaving 153,428 haplotypes. Estimated haplotypes had a large contribution to the total variance of genomic estimated breeding values for kilogram of protein, Global Type Index, Somatic Cell Score and Days Open (between 32 and 99.9%). Haploblocks containing haplotypes with large effects were selected by filtering for each trait, haplotypes whose effect was larger/lower than the mean plus/minus 3 times the standard deviation (SD) and 1 SD above the mean of the haplotypes effect distribution. Results showed that filtering by 3 SD would not be enough to capture a large proportion of genetic variance, whereas filtering by 1 SD could be useful but model convergence should be considered. Additionally, sequence haplotypes were able to capture additional genetic variance to the polygenic effect for traits undergoing lower selection intensity like fertility and health traits.

  20. The analysis of APOL1 genetic variation and haplotype diversity provided by 1000 Genomes project.

    Peng, Ting; Wang, Li; Li, Guisen

    2017-08-11

    The APOL1 gene variants has been shown to be associated with an increased risk of multiple kinds of diseases, particularly in African Americans, but not in Caucasians and Asians. In this study, we explored the single nucleotide polymorphism (SNP) and haplotype diversity of APOL1 gene in different races provided by 1000 Genomes project. Variants of APOL1 gene in 1000 Genome Project were obtained and SNPs located in the regulatory region or coding region were selected for genetic variation analysis. Total 2504 individuals from 26 populations were classified as four groups that included Africa, Europe, Asia and Admixed populations. Tag SNPs were selected to evaluate the haplotype diversities in the four populations by HaploStats software. APOL1 gene was surrounded by some of the most polymorphic genes in the human genome, variation of APOL1 gene was common, with up to 613 SNP (1000 Genome Project reported) and 99 of them (16.2%) with MAF ≥ 1%. There were 79 SNPs in the URR and 92 SNPs in 3'UTR. Total 12 SNPs in URR and 24 SNPs in 3'UTR were considered as common variants with MAF ≥ 1%. It is worth noting that URR-1 was presents lower frequencies in European populations, while other three haplotypes taken an opposite pattern; 3'UTR presents several high-frequency variation sites in a short segment, and the differences of its haplotypes among different population were significant (P < 0.01), UTR-1 and UTR-5 presented much higher frequency in African population, while UTR-2, UTR-3 and UTR-4 were much lower. APOL1 coding region showed that two SNP of G1 with higher frequency are actually pull down the haplotype H-1 frequency when considering all populations pooled together, and the diversity among the four populations be widen by the G1 two mutation (P 1  = 3.33E-4 vs P 2  = 3.61E-30). The distributions of APOL1 gene variants and haplotypes were significantly different among the different populations, in either regulatory or coding regions. It could provide