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Sökning: WFRF:(Beecham Sarah)

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1.
  • Beecham, Ashley H, et al. (författare)
  • Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
  • 2013
  • Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:11, s. 1353-60
  • Tidskriftsartikel (refereegranskat)abstract
    • Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
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2.
  • Avritzer, Alberto, et al. (författare)
  • Extending Survivability Models for Global Software Development with Media Synchronicity Theory
  • 2015
  • Ingår i: Proceeding of the IEEE 10th International Conference on Global Software Engineering. - : IEEE Communications Society. - 9781479984091 ; , s. 23-32
  • Konferensbidrag (refereegranskat)abstract
    • In this paper we propose a new framework to assess survivability of software projects accounting for media capability details as introduced in Media Synchronicity Theory (MST). Specifically, we add to our global engineering framework the assessment of the impact of inadequate conveyance and convergence available in the communication infrastructure selected to be used by the project, on the system ability to recover from project disasters. We propose an analytical model to assess how the project recovers from project disasters related to process and communication failures. Our model is based on media synchronicity theory to account for how information exchange impacts recovery. Then, using the proposed model we evaluate how different interventions impact communication effectiveness. Finally, we parameterize and instantiate the proposed survivability model based on a data gathering campaign comprising thirty surveys collected from senior global software development experts at ICGSE'2014 and GSD'2015.
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4.
  • Clear, Tony, et al. (författare)
  • Challenges and recommendations for the design and conduct of global software engineering courses : A systematic review
  • 2016
  • Ingår i: Proceedings of The 2015 Iticse Conference on Working Group Reports (Iticse-Wgp'15). - New York : ACM Press. - 9781450341462 ; , s. 1-39
  • Konferensbidrag (refereegranskat)abstract
    • Context: Global Software Engineering (GSE) has become the predominant form of software development for global companies and has given rise to a demand for students trained in GSE. In response, universities are developing courses and curricula around GSE and researchers have begun to disseminate studies of these new approaches.Problem: GSE differs from most other computer science fields, however, in that practice is inseparable from theory. As a result, educators looking to create GSE courses face a daunting task: integrating global practice into the local classroom.Aim: This study aims to ameliorate the very difficult task of teaching GSE by delineating the challenges and providing some recommendations for overcoming them.Method: To meet our aims we pose two research questions ("When teaching GSE to students in Higher Education, what are the (a) challenges, and (b) recommendations for addressing them") and then conduct a systematic literature review (SLR) to determine the answers to these questions. Our SLR follows a carefully designed and validated protocol.Results: We found 82 papers that addressed our research questions. Our findings indicate that in addition to the challenges posed by GSE in general, particular problems arise in educational situations. The majority of these challenges fall into the "global distance" category, though teamwork challenges and people issues (such as trust) also commonly arise. Organizational differences between institutions, differing skill sets between students in different locations, and varying cultural work norms, for example, all operate within educational settings in quite different ways than in professional development teams. Integrating cultural training, conducting teamwork exercises to build trust, and instructor monitoring of team communication are all examples of techniques that have been used successfully by educators according to our review.Conclusion: Despite the severity of the challenges in GSE education, many institutions have successfully developed courses and curricula targeting GSE. Indeed, for each of the challenges we have identified in the literature there are numerous recommendations for overcoming them. Instructors can use the recommendations given in this study as a starting point to running successful GSE courses.
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5.
  • Clear, Tony, et al. (författare)
  • Developments in Global Software Engineering Education
  • 2016
  • Ingår i: 2016 IEEE FRONTIERS IN EDUCATION CONFERENCE (FIE). - 9781509017904
  • Konferensbidrag (refereegranskat)abstract
    • An ITiCSE 2015 conference working group report has recently delivered a comprehensive systematic review of the literature addressing the challenges and solutions in teaching global software engineering courses. In this panel session, a group of authors of that report will review the findings, and present their own views on teaching such courses, the pros and cons and their own motivations and experiences, together with strategies that have proven effective. We argue that these courses are critical for preparing students for practice as software engineers in today's global settings, but they are certainly not for the faint-hearted. After the review and presentation of position statements by panelists there will be a question and answer session with the audience and a discussion elaborating on the next frontiers in research and practice for global software engineering education.
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6.
  • Generic Requirements for Inclusive Healthcare Software: Supporting Older Adults and People with Intellectual and Developmental Disability
  • 2023
  • Proceedings (redaktörskap) (refereegranskat)abstract
    • As healthcare technology advances, it is important to ensure that everyone benefits from healthcare software, regardless of age or ability. That is why our research team has been working to identify and encapsulate the unique needs of two groups when developing software systems: older adults and people with mild intellectual and developmental disabilities. Through our research, we have developed design patterns that software engineers can use to create more usable healthcare software to support these groups. These patterns identify the generic requirements for usability including accessibility, crucial for creating software that meets the needs of marginalised populations. In this paper, we describe the steps we undertook to identify and develop these requirements. We discover many overlapping needs of these two cohorts. Our research aims to benefit older adults and people with mild intellectual and developmental disabilities and improve the lives of many others facing similar challenges. As we expand our research to other cohorts, we will be able to identify additional generic requirements that make healthcare software development more inclusive and effective.
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7.
  • Hibar, Derrek P., et al. (författare)
  • Novel genetic loci associated with hippocampal volume
  • 2017
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8
  • Tidskriftsartikel (refereegranskat)abstract
    • The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r(g) = -0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.
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8.
  • Kuhrmann, Marco, et al. (författare)
  • What Makes Agile Software Development Agile
  • 2022
  • Ingår i: IEEE Transactions on Software Engineering. - 0098-5589 .- 1939-3520. ; 48:9, s. 3523-3539
  • Tidskriftsartikel (refereegranskat)abstract
    • Together with many success stories, promises such as the increase in production speed and the improvement in stakeholders' collaboration have contributed to making agile a transformation in the software industry in which many companies want to take part. However, driven either by a natural and expected evolution or by contextual factors that challenge the adoption of agile methods as prescribed by their creator(s), software processes in practice mutate into hybrids over time. Are these still agile In this article, we investigate the question: what makes a software development method agile We present an empirical study grounded in a large-scale international survey that aims to identify software development methods and practices that improve or tame agility. Based on 556 data points, we analyze the perceived degree of agility in the implementation of standard project disciplines and its relation to used development methods and practices. Our findings suggest that only a small number of participants operate their projects in a purely traditional or agile manner (under 15%). That said, most project disciplines and most practices show a clear trend towards increasing degrees of agility. Compared to the methods used to develop software, the selection of practices has a stronger effect on the degree of agility of a given discipline. Finally, there are no methods or practices that explicitly guarantee or prevent agility. We conclude that agility cannot be defined solely at the process level. Additional factors need to be taken into account when trying to implement or improve agility in a software company. Finally, we discuss the field of software process-related research in the light of our findings and present a roadmap for future research.
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9.
  • Wang, Li-San, et al. (författare)
  • Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States.
  • 2015
  • Ingår i: JAMA neurology. - : American Medical Association (AMA). - 2168-6157 .- 2168-6149. ; 72:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of this variant in AD cases and cognitively normal controls to determine whether this variant will significantly contribute to risk assessment in individuals in the United States.
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