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Genetics, a discipline of biology, is one of the most recent and rapidly advancing disciplines in science. This study aims to present a bibliometric analysis of the genetics research output of Iranian authors, map the intellectual structure of these studies and investigate the development path of this literature and the interrelationships among the main topics.

This study searched the Web of Science database for documentation of Iranian-published genetics research published up to 2020. Further, this study used HistCite software to profile and analyze the most cited articles and references and to draw their historiographies.

A database search revealed 21,329 documents that created the study population. The highest cited publications based on the Global Citation Score (GCS) and Local Citation Score (LCS) achieved scores of 602 and 47, respectively. The publication growth rate study demonstrated consistent expansion over time. The scientific maps based on LCS and GCS had five and four clusters, respectively. Furthermore, journal articles emerged as the predominant type of publication.

The significance of this study is in its contribution to understanding the genetics research position in Iran, informing policymakers and researchers, helping scientific collaboration and its impact on public attitudes and quality of life. The results of the present study, with benefits for various groups of communities, such as policymakers, academic groups and public society, can bridge the gap between theoretical research and practical implications.

The results of this study, by helping future advancement in health care, medical genetics and disease prevention, may have a direct and indirect positive influence on the quality of life. Furthermore, it may lead to more informed discussions on health care and biotechnology as well as influencing public attitudes and perceptions.

Ultimately, this study concludes that despite the proliferation of publications in terms of quantity and complexity, especially in areas such as disease diagnosis, prevention and treatment, there remains a need for more attention to other facets of genetics such as biology and biotechnology. Iranian publications are most related to population genetics, human genetics, molecular genetics, medical genetics, genomics, developmental genetics and evolutionary genetics out of 10 branches of genetics. This study reveals patterns in scientific outputs and authorship collaborations and plays an alternative and innovative role in revealing Iranian research trends in genetics.

This chapter compares interdisciplinary research that engages genomic science from economics, political science, and sociology. It describes, compares, and evaluates concepts and research findings from new and rapidly developing research fields, and develops a conceptual taxonomy of the social environment.

A selection of programmatic and empirical articles, published mostly since 2008 in leading economics, political science, and sociology journals, were analyzed according to (a) the relationship they pose between their discipline and genomic science, (b) the specific empirical contributions they make to disciplinary research questions, and (c) their conceptualization of the “social environment” as it informs the central problematique of current inquiry: gene-environment interaction.

While all three of the social science disciplines reviewed engage genomic science, economics and political science tend to engage genomics on its own terms, and develop genomic explanations of economic and political behavior. In contrast, sociologists develop arguments that for genomic science to advance, the “environment” in gene-environment interaction needs better theorization and measurement. We develop an approach to the environment that treats it as a set of measurable institutional (rule-like) arrangements, which take the forms of neighborhoods, families, schools, nations, states, and cultures.

Interdisciplinary research that combines insights from the social sciences and genomic science should develop and apply a richer array of concepts and measures if gene-environment research – including epigenetics – is to advance.

This chapter provides a critical review and redirection of three rapidly developing areas of interdisciplinary research on gene-environment interaction and epigenetics.

As the neurosciences endeavor to explain increasingly complex aspects of human biology and behavior, domains of human life that can only be assessed in social interaction become ever more important, if formally unacknowledged, dimensions of scientific research. Drawing on semi-structured interviews with 14 researchers who study epilepsy genetics, this chapter examines how neuroscientists encounter ‘the social.’ We find that at the beginning of their careers, researchers are intrigued by epilepsy as a disease of the brain and a means of exploring “the last frontier in medicine.” However, as they begin their investigations, the importance of building social relationships, gleaning the subtleties of seizure experience available only in patient narratives, and engaging with families in the field quickly emerge as important parts of epilepsy genetics research. Some researchers hope for and work toward a day when new techniques or models will allow them to forgo the time consuming, painstaking, and often invisible work of gathering detailed histories, combing through patient narratives, and traveling to field sites to meet with families. However, these accounts make clear that, at the current moment, much of “the molecular work” of epilepsy genetics research is built upon social interactions, relationships, and experiences.

In the Fall semester of 2001, a new position – Bioinformatics Librarian – was developed jointly by the University of Florida's Health Science Center Libraries (HSCL) and Genetics Institute (UFGI). Aims to give an overview of this post.

This paper describes the development of the position and the services provided.

Funded by the Genetics Institute and housed in the library, this position was created to meet the information needs of the university's faculty, students and staff involved in genetics and bioinformatics research and study. The responsibilities of the position were in part patterned after those performed via the HSCL's existing Liaison Librarian program. Librarians with only an undergraduate degree in the biosciences can still make an important, albeit usually less complete, contribution in this area.

The University of Florida's Bioinformatics Librarian position may serve as a model for the Information Specialist in Context (ISIC; Informationist; Bioinformationist) in the research arena.

This paper is the result of the research I undertook at Lancaster University with a Marie Curie Fellowship during the academic years 2000‐2002. The objective of this research was to study the limits and the challenges of the analogy between molecular geneticists’ work and hackers’ activities. By focusing on this analogy I aim to explore the different ethical and philosophical issues surrounding new genetics and its IPR regulations. The paper firstly will show the philosophical background lying behind the proposed analogy and analyses the sense in which we can talk of geneticists as “hackers.” It will provide grounds for the analogy by exploring some of the techniques used by geneticists; in particular it will focus on the so‐called Shotgun method for genomic sequencing. After having provided reasons for the proposed analogy I will claim that the open source philosophy used in the computer field would be a good way to regulate research in the genetics and in pharmaceutical field too. The open source philosophy would provide fair distribution of research opportunities around the globe with the shift from patenting to copyright in sensitive fields such as genetics.

My interest in inquiry-based learning spans my career teaching science and non-science majors about cell/molecular biology, genetics, and evolution. My Genetics Lab course allows students to perform hypothesis-driven research in small groups using my research program as the basis for their authentic, discovery-based experiences. This course has undergone multiple revisions and is now suitable for the cognitive developmental level of undergraduates; it challenges them but avoids frustrating them. I will share how to navigate the trade-off of reducing content coverage in favor of emphasizing the scientific process and the actual doing of science. I will describe how to help students understand the difference between information and knowledge, how to better comprehend the primary literature, and how to build on this body of work to advance scientific discovery and understanding. I will illustrate how to scaffold and improve student’s existing skills and abilities such as critical thinking, oral and written communication, data interpretation and reporting, and how to develop and expand on their creativity in posing questions that become the basis of their hypothesis-driven work in the laboratory. Finally, I will explain why I choose to use my research program as a means of guided discovery rather than an open-ended format.

Describes Myriad Genetics and its struggle to develop a genetic testing service while facing challenges from competitors and activist organizations. After Myriad's discovery of the BRCA gene, capable of genetic testing for breast cancer in women, Myriad needed to choose a strategy to provide this service to the public. With several major competitors offering similar services, intense media scrutiny, and a charged activist and political climate, a poor Myriad decision could have major repercussions.

A study was carried out to assess the correlation between scores achieved by academic departments in the UK in the 1992 Research Assessment Exercise, and the number of citations received by academics in those departments for articles published in the period 1988±1992, using the Institute for Scientific Information’s citation databases. Only those papers first authored by academics identified from the Commonwealth Universities Yearbook were examined. Three subject areas: Anatomy, Genetics and Archaeology were chosen to complement Library and Information Management that had already been the subject of such a study. It was found that in all three cases, there is a statistically significant correlation between the total number of citations received, or the average number of citations per member of staff, and the Research Assessment Exercise score. Surprisingly, the strongest correlation was found in Archaeology, a subject noted for its heavy emphasis on monographic literature and with relatively low citation counts. The results make it clear that citation counting provides a robust and reliable indicator of the research performance of UK academic departments in a variety of disciplines, and the paper argues that for future Research Assessment Exercises, citation counting should be the primary, but not the only, means of calculating Research Assessment Exercise scores.

Purpose – The goal of this chapter is to demonstrate the importance of incorporating gene by environment (G×E) interactions into behavioral science theory and research.

Design/methodology/approach – We critique behavioral genetics, discuss the emergence of epigenetics, review findings on G×E effects, and present the differential susceptibility model of gene–environment interplay.

Findings – The studies reviewed demonstrate that genetic variation often interacts with environmental context to influence the probability of various behaviors. Importantly, in many, and perhaps most, of the studies reviewed, the genetic variable, unlike the environmental variable, has little if any main effect on the outcome of interest. Rather, the influence of the genetic variable is limited to its moderation of the effect of the environmental construct.

Research limitations/implications – Molecular G×E research does not undermine the importance of environmental factors; rather it shows how social scientific explanations of human behavior might be made more precise by incorporating genetic information. This suggests expanded research opportunities for those interested in social causation.

Social implications – This model of molecular G×E research presented suggests that a substantial proportion of the population is genetically predisposed to be more susceptible than others to environmental influence. We argue that this model of G×E is particularly relevant to sociologists and psychologists and has the potential to enhance the development of theory in both areas.

Originality/value – This chapter will be of particular interest to sociologists and psychologists who have found the behavioral genetic paradigm off-putting because of its emphasis on genetic main effects and genetic determinism. The current chapter offers an alternative model that may better capture the available data and better integrate social processes with genetic and biological processes.