Ant Colony Optimisation for Exploring Logical Gene-Gene Associations in Genome Wide Association Studies.

In this paper a search for the logical variants of gene-gene interactions in genome-wide association study (GWAS) data using ant colony optimisation is proposed. The method based on stochastic algorithms is tested on a large established database from the Wellcome Trust Case Control Consortium and is shown to discover logical operations between combinations of single nucleotide polymorphisms that can discriminate Type II diabetes. A variety of logical combinations are explored and the best discovered associations are found within reasonable computational time and are shown to be statistically significantThis study makes use of data generated by the Wellcome Trust Case Control Consortium. A full list of the investigators who contributed to the generation of the data is available from http://www.wtccc.org.uk. Funding for the project was provided by the Wellcome Trust under award 076113. The work contained in this paper was funded by an EPSRC First Grant (EP/J007439/1) and we acknowledge their kind support

Supervision and culture: Meetings at thresholds

Counsellors are required to engage in supervision in order to reflect on, reflexively review, and extend their practice. Supervision, then, might be understood as a partnership in which the focus of practitioners and supervisors is on ethical and effective practice with all clients. In Aotearoa/New Zealand, there has recently been interest in the implications for supervision of cultural difference, particularly in terms of the Treaty of Waitangi as a practice metaphor, and when non-Māori practitioners counsel Māori clients. This article offers an account of a qualitative investigation by a group of counsellors/supervisors into their experiences of supervision as cultural partnership. Based on interviews and then using writing-as-research, the article explores the playing out of supervision’s contribution to practitioners’ effective and ethical practice in the context of Aotearoa/New Zealand, showing a range of possible accounts and strategies and discussing their effects. Employing the metaphor of threshold, the article includes a series of reflections and considerations for supervision practice when attention is drawn to difference

Ritual Machines I & II: Making Technology at Home

Changing patterns of both work-related mobility and domestic arrangements mean that ‘mobile workers’ face challenges to support and engage in family life whilst travelling for work. Phatic devices offer some potential to provide connection at a distance alongside existing communications infrastructure. Through a bespoke design process, incorporating phases of design ethnography, critical technical practice and provotyping we have developed Ritual Machines I and II as material explorations of mobile workers’ lives and practices. In doing this we sought to reflect upon the practices through which families accomplish mobile living, the values they place in technology for doing ‘family’ at a distance and to draw insights in to the potential roles of digital technology in supporting them. We frame the design of our phatic devices in discussion of processes of bespoke design, offer advice on supporting mobile workers when travelling and articulate the values of making a technology at home when designing for domestic and mobile settings

Parental diabetes and birthweight in 236 030 individuals in the UK biobank study

This is a freely-available open access publication. Please cite the published version which is available via the DOI link in this record.BACKGROUND: The UK Biobank study provides a unique opportunity to study the causes and consequences of disease. We aimed to use the UK Biobank data to study the well-established, but poorly understood, association between low birthweight and type 2 diabetes. METHODS: We used logistic regression to calculate the odds ratio for participants' risk of type 2 diabetes given a one standard deviation increase in birthweight. To test for an association between parental diabetes and birthweight, we performed linear regression of self-reported parental diabetes status against birthweight. We performed path and mediation analyses to test the hypothesis that birthweight partly mediates the association between parental diabetes and participant type 2 diabetes status. RESULTS: Of the UK Biobank participants, 277 261 reported their birthweight. Of 257 715 individuals of White ethnicity and singleton pregnancies, 6576 had type 2 diabetes, 19 478 reported maternal diabetes (but not paternal), 20 057 reported paternal diabetes (but not maternal) and 2754 participants reported both parents as having diabetes. Lower birthweight was associated with type 2 diabetes in the UK Biobank participants. A one kilogram increase in birthweight was associated with a lower risk of type 2 diabetes (odds ratio: 0.74; 95% CI: 0.71, 0.76; P = 2 × 10(-57)). Paternal diabetes was associated with lower birthweight (45 g lower; 95% CI: 36, 54; P = 2 × 10(-23)) relative to individuals with no parental diabetes. Maternal diabetes was associated with higher birthweight (59 g increase; 95% CI: 50, 68; P = 3 × 10(-37)). Participants' lower birthweight was a mediator of the association between reported paternal diabetes and participants' type 2 diabetes status, explaining 1.1% of the association, and participants' higher birthweight was a mediator of the association between reported maternal diabetes and participants' type 2 diabetes status, explaining 1.2% of the association. CONCLUSIONS: Data from the UK Biobank provides the strongest evidence by far that paternal diabetes is associated with lower birthweight, whereas maternal diabetes is associated with increased birthweight. Our findings with paternal diabetes are consistent with a role for the same genetic factors influencing foetal growth and type 2 diabetes.ERDF (European Regional Development Fund)ESF (European Social Fund) Convergence Programme for Cornwall and the Isles of ScillyWellcome TrustThe European Research CouncilDiabetes U

Identification of dyslipidemia genes : genetics and molecular biology

New approaches to determine which common genetic variants may be responsible for lipid disorders within the wider population particularly the association between clinical phenotype and single nucleotide polymorphisms (SNPs) or genetic loci in multiple genes. These systematic genome-wide association studies (GWAS) have identified several new loci. At 5 loci the same SNP identified in whites was found to be significantly associated with blood lipids across all ethnic groups. At 1p13 near PSRC1/CELSR2/SORT1, rs646776 and at HMGCR, rs12654264 were associated with LDL-C. In all groups each copy of the minor G allele in polymorphism rs646776 lowered LDL-C. SNPs, r1800775 at CETP and rs328 at LPL were associated with HDL-C. Increases in minor allele copy number of r1800775 and rs328 resulted in decreases and increases in HDL-C respectively. At APOA5, increase in minor allele copy number of rs3135506 was associated with increases in triglyceride levels. This indicates that all 5 loci are important for controlling lipid profiles across ethnic/racial groups and highlight the relevance of the newly discovered locus at 1p13 near PSRC1/CELSR2/SORT1. GWA studies have also identified common variants in the fat mass and obesity (FTO) gene associated with body mass index (BMI) and increased risk of obesity. The rs9939609 A allele was found to be associated with increased BMI, lower plasma HDL-C levels, higher plasma triglycerides, greater atherogenic markers and increased risk of myocardial infarction. The increased risk of MI was abolished by statin use suggesting the FTO genotype may provide a therapeutic target

Operationalizing design fiction with anticipatory ethnography

Transmuting the entanglement of situations, contexts, artifacts and people, designers mediate the relationship between ‘what could be’ and ‘what is’. All design, then, has an implicit relationship with the future. Latency will always exist as part of this relationship, between the inception of a design concept, development and delivery ofthat concept, and the manifestation ofthat concept’s potential impact on the world. As we move further into the heart of the Digital Revolution these periods of latency decrease, whilst the breadth and depth of potential impacts increase. Always an arm’s length away, but with a velocity and mass greater than at any point in history, the momentum of the future today is greater than ever before. This paper describes the practicalities of operationalizing design fiction, using anticipatory ethnography, in order to illuminate and explore the implications of plausible near futures and in doing so allowing designers and their designs to match the velocity of the future before critical impacts occur. By harnessing designers' speculation can we make the future’s ‘what is’ better than simply ‘what could be’