| 1. |
|
|
| 2. |
- Campbell, PJ, et al.
(författare)
-
Pan-cancer analysis of whole genomes
- 2020
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
-
Tidskriftsartikel (refereegranskat)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
|
|
| 3. |
|
|
| 4. |
- Kaput, J, et al.
(författare)
-
The case for strategic international alliances to harness nutritional genomics for public and personal health
- 2005
-
Ingår i: The British journal of nutrition. - : Cambridge University Press (CUP). - 0007-1145 .- 1475-2662. ; 94:5, s. 623-632
-
Tidskriftsartikel (refereegranskat)abstract
- Nutrigenomics is the study of how constituents of the diet interact with genes, and their products, to alter phenotype and, conversely, how genes and their products metabolise these constituents into nutrients, antinutrients, and bioactive compounds. Results from molecular and genetic epidemiological studies indicate that dietary unbalance can alter gene–nutrient interactions in ways that increase the risk of developing chronic disease. The interplay of human genetic variation and environmental factors will make identifying causative genes and nutrients a formidable, but not intractable, challenge. We provide specific recommendations for how to best meet this challenge and discuss the need for new methodologies and the use of comprehensive analyses of nutrient–genotype interactions involving large and diverse populations. The objective of the present paper is to stimulate discourse and collaboration among nutrigenomic researchers and stakeholders, a process that will lead to an increase in global health and wellness by reducing health disparities in developed and developing countries.
|
|
| 5. |
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
- Abudurexiti, A, et al.
(författare)
-
Taxonomy of the order Bunyavirales: update 2019
- 2019
-
Ingår i: Archives of virology. - : Springer Science and Business Media LLC. - 1432-8798 .- 0304-8608. ; 164:7, s. 1949-1965
-
Tidskriftsartikel (refereegranskat)
|
|
| 9. |
|
|
| 10. |
- Gumz, Michelle L, et al.
(författare)
-
Toward Precision Medicine : Circadian Rhythm of Blood Pressure and Chronotherapy for Hypertension - 2021 NHLBI Workshop Report
- 2023
-
Ingår i: Hypertension. - : Wolters Kluwer. - 0194-911X .- 1524-4563. ; 80:3, s. 503-522
-
Tidskriftsartikel (refereegranskat)abstract
- Healthy individuals exhibit blood pressure variation over a 24-hour period with higher blood pressure during wakefulness and lower blood pressure during sleep. Loss or disruption of the blood pressure circadian rhythm has been linked to adverse health outcomes, for example, cardiovascular disease, dementia, and chronic kidney disease. However, the current diagnostic and therapeutic approaches lack sufficient attention to the circadian rhythmicity of blood pressure. Sleep patterns, hormone release, eating habits, digestion, body temperature, renal and cardiovascular function, and other important host functions as well as gut microbiota exhibit circadian rhythms, and influence circadian rhythms of blood pressure. Potential benefits of nonpharmacologic interventions such as meal timing, and pharmacologic chronotherapeutic interventions, such as the bedtime administration of antihypertensive medications, have recently been suggested in some studies. However, the mechanisms underlying circadian rhythm-mediated blood pressure regulation and the efficacy of chronotherapy in hypertension remain unclear. This review summarizes the results of the National Heart, Lung, and Blood Institute workshop convened on October 27 to 29, 2021 to assess knowledge gaps and research opportunities in the study of circadian rhythm of blood pressure and chronotherapy for hypertension.
|
|
| 11. |
|
|
| 12. |
|
|
| 13. |
- Moshontz, Hannah, et al.
(författare)
-
The Psychological Science Accelerator: Advancing Psychology Through a Distributed Collaborative Network
- 2018
-
Ingår i: Advances in Methods and Practices in Psychological Science. - : SAGE Publications. - 2515-2459 .- 2515-2467. ; 1:4, s. 501-515
-
Tidskriftsartikel (refereegranskat)abstract
- Concerns about the veracity of psychological research have been growing. Many findings in psychological science are based on studies with insufficient statistical power and nonrepresentative samples, or may otherwise be limited to specific, ungeneralizable settings or populations. Crowdsourced research, a type of large-scale collaboration in which one or more research projects are conducted across multiple lab sites, offers a pragmatic solution to these and other current methodological challenges. The Psychological Science Accelerator (PSA) is a distributed network of laboratories designed to enable and support crowdsourced research projects. These projects can focus on novel research questions or replicate prior research in large, diverse samples. The PSA’s mission is to accelerate the accumulation of reliable and generalizable evidence in psychological science. Here, we describe the background, structure, principles, procedures, benefits, and challenges of the PSA. In contrast to other crowdsourced research networks, the PSA is ongoing (as opposed to time limited), efficient (in that structures and principles are reused for different projects), decentralized, diverse (in both subjects and researchers), and inclusive (of proposals, contributions, and other relevant input from anyone inside or outside the network). The PSA and other approaches to crowdsourced psychological science will advance understanding of mental processes and behaviors by enabling rigorous research and systematic examination of its generalizability.
|
|
| 14. |
|
|
| 15. |
|
|
| 16. |
- Schweinsberg, Martin, et al.
(författare)
-
Same data, different conclusions : Radical dispersion in empirical results when independent analysts operationalize and test the same hypothesis
- 2021
-
Ingår i: Organizational Behavior and Human Decision Processes. - : Elsevier BV. - 0749-5978 .- 1095-9920. ; 165, s. 228-249
-
Tidskriftsartikel (refereegranskat)abstract
- In this crowdsourced initiative, independent analysts used the same dataset to test two hypotheses regarding the effects of scientists' gender and professional status on verbosity during group meetings. Not only the analytic approach but also the operationalizations of key variables were left unconstrained and up to individual analysts. For instance, analysts could choose to operationalize status as job title, institutional ranking, citation counts, or some combination. To maximize transparency regarding the process by which analytic choices are made, the analysts used a platform we developed called DataExplained to justify both preferred and rejected analytic paths in real time. Analyses lacking sufficient detail, reproducible code, or with statistical errors were excluded, resulting in 29 analyses in the final sample. Researchers reported radically different analyses and dispersed empirical outcomes, in a number of cases obtaining significant effects in opposite directions for the same research question. A Boba multiverse analysis demonstrates that decisions about how to operationalize variables explain variability in outcomes above and beyond statistical choices (e.g., covariates). Subjective researcher decisions play a critical role in driving the reported empirical results, underscoring the need for open data, systematic robustness checks, and transparency regarding both analytic paths taken and not taken. Implications for orga-nizations and leaders, whose decision making relies in part on scientific findings, consulting reports, and internal analyses by data scientists, are discussed.
|
|
| 17. |
|
|
| 18. |
|
|
| 19. |
- Arbaugh, J.B, et al.
(författare)
-
Developing a community of inquiry instrument : testing a measure of the Community of Inquiry framework using a multi-institutional sample
- 2009
-
Ingår i: The Internet and higher education. - : Elsevier BV. - 1096-7516 .- 1873-5525. ; 11:3-4, s. 133-136
-
Tidskriftsartikel (refereegranskat)abstract
- This article reports on the multi-institutional development and validation of an instrument that attempts to operationalize Garrison, Anderson and Archer's Community of Inquiry (Col) framework (2000). The results of the study suggest that the instrument is a valid, reliable, and efficient measure of the dimensions of social presence and cognitive presence, thereby providing additional support for the validity of the Col as a framework for constructing effective online learning environments. While factor analysis supported the idea of teaching presence as a construct, it also suggested that the construct consisted of two factors-one related to course design and organization and the other related to instructor behavior during the course. The article concludes with a discussion of potential implications of further refinement of the Col measures for researchers, designers, administrators, and instructors.
|
|
| 20. |
|
|
| 21. |
- Cleveland-Innes, Marta, et al.
(författare)
-
Higher education and post-industrial society: New ideas about teaching, learning, and technology
- 2010
-
Konferensbidrag (refereegranskat)abstract
- Online learning offers the opportunity to examine and rethink the teaching and learning enterprise in education broadly. Online learning can be conceived of as the new distance education, where issues such as interaction and dialogue are introduced back into the distance education model. However, regardless of education delivery mode – face-to-face, online, distance or some combination through blended learning – teaching (and learning) is changing. Online learning, whether synchronous or asynchronous, offers a range of pedagogical practices previously unavailable in both distance and face-to-face higher education.
|
|
| 22. |
- Cleveland-Innes, Marta, et al.
(författare)
-
Learner independence and interdependence in online communities of inquiry : The case for teaching presence
- 2007. - 13
-
Ingår i: Exemplary research in distance education, e-learning, and on related competence issues. - : Bibliotheks- und Informationssystem der Universität Oldenburg. ; , s. 91-107
-
Konferensbidrag (refereegranskat)abstract
- Historically, a core value of distance education has been independent study shaped by oftenrigorous design protocols and support structures of the educational institution. However, morerecently, distance education appears to be in a process of re-examining the teaching and learningprocess. Peters (2002) states that education in general is experiencing a “radical and far-reachingrestructuring process …” (p. 26) and will have a disproportionate effect on distance education.According to Peters (2002), “the digital revolution has already begun and is well underway indistance education” (p. 34). Much of this centers around access and interactivity and “how usefulit is to become members of virtual communities of students” (Peters, 2002, p. 35). What is notclear is the exact nature of these interactions and communities and how these changes will modifythe core value of distance education – learner independence.The core question here is: to what degree should online distance education hold to the ideal ofindependent study? An argument is made for the importance of considering both learner independenceand interdependence in an online learning environment. Evidence is presented regarding theimportance of teaching presence in the determination of the role of online learner, particularly asit relates to independence and interdependence. Novice online learners and their instructors werequestioned regarding their reaction to the experience of being online. Responses were examinedin relation to the perceived need for learner independence and interdependence in onlinecommunities of inquiry.
|
|
| 23. |
- Cleveland-Innes, Marta, et al.
(författare)
-
The role of learner in an online community of inquiry : Instructor support for first time online learners
- 2009
-
Ingår i: Web-Based Learning Solutions for Communities of Practice. - : IGI Global. - 9781605667119 - 1605667110 ; , s. 167-184
-
Bokkapitel (refereegranskat)abstract
- Students experiencing an online educational community for the first time experience adjustment in therole of learner. Findings from a study of adjustment to online learning from the instructor’s point ofview validate five main areas of adjustment identified in previous research: technology, instructor role,modes of interaction, self-identity and course design. Using a confirmatory research model, instructorsfrom two open and distance institutions were interviewed. Data confirmed that instructors also perceiveadjustment in the five areas of online experience identified by students. In addition, student adjustmentin these five areas can be understood in light of core dimensions of learner role requirements in anonline community of inquiry (Garrison, Anderson, and Archer, 2000). Instructor comments provideunderstanding of the experience of online learners, including the challenges, interventions and resolutionsthat present themselves as unique incidents. Recommendations for the support and facilitation ofadjustment are made. Funding for this research was received from the Athabasca University MissionCritical Research Fund.
|
|
| 24. |
- Garrison, D.R, et al.
(författare)
-
Critical factors in student satisfaction and success : Facilitating student role adjustment in online communities of inquiry
- 2004
-
Ingår i: Elements of quality online education. - : Sloan Consortium. - 9780967774169 ; , s. 29-38
-
Bokkapitel (refereegranskat)abstract
- The purpose of this study is to validate an instrument to study role adjustment of students new to anonline community of inquiry. The community of inquiry conceptual model for online learning was usedto shape this research and identify the core elements and conditions associated with role adjustment toonline learning (Garrison, Anderson and Archer, 2000). Through a factor analytic process it is shown thatthe instrument did reflect the theoretical model. It was also useful in refining the items for thequestionnaire. The instrument is for use in future research designed to measure and understand studentrole adjustment in online learning.
|
|
| 25. |
- Garrison, D.R, et al.
(författare)
-
Exploring causal relationships among cognitive, social and teaching presence: Student perceptions of the community of inquiry framework
- 2010
-
Ingår i: The Internet and higher education. - : Elsevier BV. - 1096-7516 .- 1873-5525. ; 13:1-2, s. 31-36
-
Tidskriftsartikel (refereegranskat)abstract
- The causal relationships among the three presences in the Community of Inquiry (CoI) framework are explored and tested in this paper. The CoI framework has been used extensively in the research and practice of online and blended learning contexts. With the development of a survey instrument based on the CoI framework, it is possible to test the hypothesized causal relationships that teaching and social presence have a significant perceived influence on cognitive presence and that teaching presence is perceived to influence social presence. The results of this study confirm the factor structure of the CoI survey and the hypothesized causal relationships among the presences predicted by the CoI framework. These results point to the key role of teaching presence in establishing and stustaining a community of inquiry. Further research is called for to explore the dynamic relationships among the presences across disciplines and institutions as well as understand the existence and role of the specific sub-elements (categories) of each presence.
|
|
| 26. |
- Richardson, J. C., et al.
(författare)
-
Using the community of inquiry framework to inform effective instructional design
- 2012
-
Ingår i: The Next Generation of Distance Education. - Boston, MA : Springer US. - 9781461417859 - 1461417848 - 9781461417842 ; , s. 97-125
-
Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- The Community of Inquiry (CoI) model views the online learning experience as a function of the relationship between three elements: social presence, teaching presence, and cognitive presence. The proposed panel and chapter will focus on how the CoI framework can be used to guide the design and implementation of online courses through the explication of measures verifying the CoI. In addition, factors external but influential to the model-technology, disciplinary differences, and the role of the online instructor-are reviewed.
|
|
| 27. |
- Swan, K., et al.
(författare)
-
Validating a measurement tool of presence in online communities of inquiry
- 2008
-
Ingår i: E-mentor. - 1731-6758 .- 1731-7428. ; 2:24
-
Tidskriftsartikel (refereegranskat)abstract
- This article examines work related to the development and validation of a measurement tool for the Communityof Inquiry (CoI) framework in online settings. The framework consists of three elements: social presence,teaching presence and cognitive presence, each of which is integral to the instrument. The 34 item instrument,and thus framework, was tested after being administered at four institutions in the Summer of 2007. The articlealso includes a discussion of implications for the future use of the CoI survey and the CoI framework itself.
|
|
