| 1. |
- Bednar, Peter, et al.
(författare)
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A Double Helix Metaphor for Use and Usefulness in Informing Systems
- 2007
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Ingår i: Use and Redesign in IS: Double Helix Relationships?. - 9781932886054 ; 10, s. 273-295
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Bokkapitel (refereegranskat)abstract
- Following the theme of this monograph, this paper discusses a dialectic we perceive to subsist between meaningful use and reflection upon use. This dialectic between experiencing use and reflecting upon experiencing use (or thinking, and thinking about thinking) may be considered in the following way. Each of these elements is subject to change. As reflection triggers change in use, and such change triggers further reflection, a spiral comes about. Lived human experience, and reflection upon that experience, seems to shape a double helix. In this paper, the authors suggest a need for a hermeneutically-informed, phenomenological approach when considering the complexities of informing systems, viewed as human activity systems. It is suggested that human actors, as users of informing systems, must own and control any inquiry into use in relation to design for themselves, and that individual sensemaking processes are the key to successful interaction within the double helix metaphor.
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| 2. |
- Nissen, Hans-Erik, et al.
(författare)
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Double Helix Relationships in Use and Design of Informing Systems: Lessons to Learn from Phenomenology and Hermeneutics
- 2007
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Ingår i: Use and Redesign in IS: Double Helix Relationships?. - 9781932886054 ; 10, s. 001-019
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Bokkapitel (refereegranskat)abstract
- The theme of this monograph of Informing Science is a dialectic we perceive to exist between meaningful use and reflection upon use. This dialectic between use and reflection on use (or thinking, and thinking about thinking) may be considered in the following way. Each of these elements is subject to change. As reflection triggers change in use, and such change triggers further reflection, a spiral comes about. Lived human experience, and reflection upon that experience, seems to shape a double helix. The monograph contains contributions exploring particular ways in which studies of use could benefit from a relationship to philosophical frameworks such as hermeneutics and phenomenology.
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| 3. |
- Palmer, Nicholette D, et al.
(författare)
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A genome-wide association search for type 2 diabetes genes in African Americans.
- 2012
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Ingår i: PloS one. - San Francisco : Public Library of Science (PLoS). - 1932-6203. ; 7:1, s. e29202-
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Tidskriftsartikel (refereegranskat)abstract
- African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity. The aim of this study was to identify genes associated with T2DM in the African American population. We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls. The most significant SNPs (n = 550 independent loci) were genotyped in a replication cohort and 122 SNPs (n = 98 independent loci) were further tested through genotyping three additional validation cohorts followed by meta-analysis in all five cohorts totaling 3,132 cases and 3,317 controls. Twelve SNPs had evidence of association in the GWAS (P<0.0071), were directionally consistent in the Replication cohort and were associated with T2DM in subjects without nephropathy (P<0.05). Meta-analysis in all cases and controls revealed a single SNP reaching genome-wide significance (P<2.5×10(-8)). SNP rs7560163 (P = 7.0×10(-9), OR (95% CI) = 0.75 (0.67-0.84)) is located intergenically between RND3 and RBM43. Four additional loci (rs7542900, rs4659485, rs2722769 and rs7107217) were associated with T2DM (P<0.05) and reached more nominal levels of significance (P<2.5×10(-5)) in the overall analysis and may represent novel loci that contribute to T2DM. We have identified novel T2DM-susceptibility variants in the African-American population. Notably, T2DM risk was associated with the major allele and implies an interesting genetic architecture in this population. These results suggest that multiple loci underlie T2DM susceptibility in the African-American population and that these loci are distinct from those identified in other ethnic populations.
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| 4. |
- Flannick, Jason, et al.
(författare)
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Data Descriptor : Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
- 2017
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Ingår i: Scientific Data. - : Springer Science and Business Media LLC. - 2052-4463. ; 4
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Tidskriftsartikel (refereegranskat)abstract
- To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (> 80% of low-frequency coding variants in similar to ~82 K Europeans via the exome chip, and similar to ~90% of low-frequency non-coding variants in similar to ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
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| 5. |
- Fuchsberger, Christian, et al.
(författare)
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The genetic architecture of type 2 diabetes
- 2016
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 536:7614, s. 41-47
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Tidskriftsartikel (refereegranskat)abstract
- The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.
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| 6. |
- Heid, Iris M, et al.
(författare)
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Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 949-960
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Tidskriftsartikel (refereegranskat)abstract
- Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10⁻⁹ to P = 1.8 × 10⁻⁴⁰) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10⁻³ to P = 1.2 × 10⁻¹³). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
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| 7. |
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| 8. |
- Bednar, Peter, et al.
(författare)
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A Case for Holistic, Multicriteria Benefit Analysis
- 2013
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Ingår i: Organizational Change and Information Systems: Working and Living Together in New Ways. - 9783642372278 ; 2, s. 337-344
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Bokkapitel (refereegranskat)abstract
- This paper discusses the ways in which a critical systemic approach to systems analysis can provide support for a holistic, multicriteria benefits analysis. It highlights the importance of inquiry into the nature and boundaries of a perceived organizational problem space, taking into account unique perspectives of the living, engaged actors who desire beneficial change in their working systems. The role of the IS professional within a collaborative inquiry is explored, taking into account creation of relevant methodological frameworks (in contrast to uncritical, rigorous application of standardized methods). The paper discusses the ways in which collaborative teams can approach identification of desirable benefits.
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| 9. |
- Bednar, Peter, et al.
(författare)
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Beyond the Usual Suspects: Critically Informed Research.
- 2008
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Ingår i: [Host publication title missing]. - 9781906638030 ; , s. 73-80
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Konferensbidrag (refereegranskat)abstract
- A number of researchers have attempted to define and encapsulate the essence of ‘critical research’. It has been suggested to encompass interpretation of social phenomena, and seeks for understandings that could support efforts to bring about beneficial change. It has been further suggested that such work is characterised by: concern with substantive social issues (e.g. power, values); foundation in a cohesive socio-theoretical core; and a distinctive role in informing the work of others. Within this definition, critical researchers tend to fall into a number of distinct traditions of thought/practice. For instance, some concern themselves with issues relating to emancipation of (other) people within society (e.g. those influenced by the work of Habermas). Some focus upon issues of self-emancipation (e.g. those deriving from Foucault’s discussion of external power relations). Others highlight issues relating to social stratification and discriminatory practices in society (e.g. those taking inspiration from work by Bourdieu). This paper introduces discussion of a further category of critical systemic thinking, exemplified by Gregory Bateson and Claudio Ciborra. Critically-informed research from a systemic perspective involves a desire to explore the unique and to question assumptions. Through engagement with reflection and exploration, perceptions of individual emergence form an important aspect of this strand.
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| 10. |
- Bednar, Peter, et al.
(författare)
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Bias, Misinformation and the Paradox of Neutrality.
- 2008
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Ingår i: [Host publication title missing]. ; 11, s. 85-106
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Konferensbidrag (refereegranskat)abstract
- What is normally described as bias? A possible definition comprises attempts to distort or mislead to achieve a certain perspective, i.e. subjective descriptions intended to mislead. If designers were able to exclude bias from informing systems, then this would maximize their effectiveness. This implicit conjecture appears to underpin much of the research in our field. However, in our efforts to support the evolution and design of informing systems, the way we think, communicate and conceptualize our efforts clearly influences our comprehension and consequently our agenda for design. Objectivity (an attempt to be neutral or transparent) is usually regarded as non-biased. However, claims for objectivity do not, by definition, include efforts to inquire into and reflect over subjective values. Attempts to externalize the mindset of the subject do not arise as part of the description. When claims to objectivity are made, this rarely includes any effort to make subjective bias transparent. Instead, objectivity claims may be regarded as a denial of bias. We suggest that bias can be introduced into overt attempts to admit subjectivity. For example, where people are asked to give subjective opinion according to an artificially enforced scale of truth-falsity (bi-valued logic), they may find themselves coerced into statements of opinion which do not truly reflect the views they might have wished to express. People do not naturally respond to their environment with opinions limited to restricted scales; rather, they tend to use multivalued logic. This paper examines the impact of bias within attempts to establish communicative practice in human activity systems (informing systems).
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