Large-scale association study identifies ICAM gene region as breast and prostate cancer susceptibility locus

We conducted a large-scale association study to identify genes that influence nonfamilial breast cancer risk using a collection of German cases and matched controls and >25,000 single nucleotide polymorphisms located within 16,000 genes. One of the candidate loci identified was located on chromosome 19p13.2 [odds ratio (OR) = 1.5, P = 0.001]. The effect was substantially stronger in the subset of cases with reported family history of breast cancer (OR = 3.4, P = 0.001). The finding was subsequently replicated in two independent collections (combined OR = 1.4, P < 0.001) and was also associated with predisposition to prostate cancer in an independent sample set of prostate cancer cases and matched controls (OR = 1.4, P = 0.002). High-density single nucleotide polymorphism mapping showed that the extent of association spans 20 kb and includes the intercellular adhesion molecule genes ICAM1, ICAM4, and ICAM5. Although genetic variants in ICAM5 showed the strongest association with disease status, ICAM1 is expressed at highest levels in normal and tumor breast tissue. A variant in ICAM5 was also associated with disease progression and prognosis. Because ICAMs are suitable targets for antibodies and small molecules, these findings may not only provide diagnostic and prognostic markers but also new therapeutic opportunities in breast and prostate cancer.

Saliva-derived DNA performs well in large-scale, high-density single-nucleotide polymorphism microarray studies

As of June 2009, 361 genome-wide association studies (GWAS) had been referenced by the HuGE database. GWAS require DNA from many thousands of individuals, relying on suitable DNA collections. We recently performed a multiple sclerosis (MS) GWAS where a substantial component of the cases (24%) had DNA derived from saliva. Genotyping was done on the Illumina genotyping platform using the Infinium Hap370CNV DUO microarray. Additionally, we genotyped 10 individuals in duplicate using both saliva- and blood-derived DNA. The performance of blood- versus saliva-derived DNA was compared using genotyping call rate, which reflects both the quantity and quality of genotyping per sample and the “GCScore,” an Illumina genotyping quality score, which is a measure of DNA quality. We also compared genotype calls and GCScores for the 10 sample pairs. Call rates were assessed for each sample individually. For the GWAS samples, we compared data according to source of DNA and center of origin. We observed high concordance in genotyping quality and quantity between the paired samples and minimal loss of quality and quantity of DNA in the saliva samples in the large GWAS sample, with the blood samples showing greater variation between centers of origin. This large data set highlights the usefulness of saliva DNA for genotyping, especially in high-density single-nucleotide polymorphism microarray studies such as GWAS.

A large scale quantitative study of pedestrian railway level crossing behaviour : deliberate violations, errors and deterrence

Every year a number of pedestrians are struck by trains resulting in death and serious injury. While much research has been conducted on train-vehicle collisions, very little is currently known about the aetiology of train-pedestrian collisions. To date, scant research has been undertaken to investigate the demographics of rule breakers, the frequency of deliberate violation versus error making and the influence of the classic deterrence approach on subsequent behaviours. Aim This study aimed to to identify pedestrians’ self-reported reasons for engaging in violations at crossing, the frequency and nature of rule breaking and whether the threat of sanctions influence such events. Method A questionnaire was administered to 511 participants of all ages. Results Analysis revealed that pedestrians (particularly younger groups) were more likely to commit deliberate violations rather than make crossing errors e.g., mistakes. The most frequent reasons given for deliberate violations were participants were running late and did not want to miss their train or participants believed that the gate was taking too long to open so may be malfunctioning. In regards to classical deterrence, an examination of the perceived threat of being apprehended and fined for a crossing violation revealed participants reported the highest mean scores for swiftness of punishment, which suggests they were generally aware that they would receive an “on the spot” fine. However, the overall mean scores for certainty and severity of sanctions (for violating the rules) indicate that the participants did not perceive the certainty and severity of sanctions as very high. This paper will further discuss the research findings in regards to the development of interventions designed to improve pedestrian crossing safety.

Large-scale testing of steel frame structures comprising non-compact sections

Application of 'advanced analysis' methods suitable for non-linear analysis and design of steel frame structures permits direct and accurate determination of ultimate system strengths, without resort to simplified elastic methods of analysis and semi-empirical specification equations. However, the application of advanced analysis methods has previously been restricted to steel frames comprising only compact sections that are not influenced by the effects of local buckling. A research project has been conducted with the aim of developing concentrated plasticity methods suitable for practical advanced analysis of steel frame structures comprising non-compact sections. A series of large-scale tests were performed in order to provide experimental results for verification of the new analytical models. Each of the test frames comprised non-compact sections, and exhibited significant local buckling behaviour prior to failure. This paper presents details of the test program including the test specimens, set-up and instrumentation, procedure, and results.

The ZomPoc Project. A Large Scale Public ARG Event

An experiment in large scale, live, game design and public performance, bringing together participants from across the creative arts to design, deliver and document a project that was both a cooperative learning experience and an experimental public performance. The four month project, funded by the Edge Digital Centre, culminated into a 24 hour ARG event involving over 100 participants in December 2012. Using the premise of a viral outbreak, young enthusiasts auditioned for the roles of Survivor, Zombie, Medic and Military. The main objective was for the Survivors to complete a series of challenges over 24 hours, while the other characters fulfilled their opposing objectives of interference and sabotage supported by both scripted and free-form scenarios staged in constructed scenes throughout the venues. The event was set in the State Library of Queensland and the Edge Digital Centre who granted the project full access, night and day to all areas including public, office and underground areas. These venues were transformed into cinematic settings full of interactive props and various audio-visual effects. The ZomPoc Project was an innovative experiment in writing and directing a large scale, live, public performance, bringing together participants from across the creative industries. In order to design such an event a number of innovative resources were developed exploiting techniques of game design, theatre, film, television and tangible media production. A series of workshops invited local artists, scientists, technicians and engineers to find new ways of collaborating to create networked artifacts, experimental digital works, robotic props, modular set designs, sound effects and unique costuming guided by an innovative multi-platform script developed by Deb Polson. The result of this collaboration was the creation of innovative game and set props, both atmospheric and interactive. Such works animated the space, presented story clues and facilitated interactions between strangers who found themselves sharing a unique experience in unexpected places.

Cooperative education through a large scale industry-school partnership

In most of the advanced economies, students are losing interest in careers especially in en¬gineering and related industries. Hence, western economies are confronting a critical skilled labour shortage in areas of technology, science and engineering. Decisions about career pathways are made as early as the primary years of schooling and hence cooperation be¬tween industry and schools to attract students to the professions is crucial. The aim of this paper is to document how the organisational and institutional elements of one industry-school partnerships initiative — The Gateway Schools Program — contribute to productive knowledge sharing and networking. In particular this paper focuses on an initiative of an Australian State government in response to a perceived crisis around the skills shortage in an economy transitioning from a localised to a global knowledge production economy. The Gateway Schools initiative signals the first sustained attempt in Australia to incorporate schools into production networks through strategic partnerships linking them to partner organisations at the industry level. We provide case examples of how four schools opera¬tionalise the partnerships with the minerals and energy industries and how these partner¬ships as knowledge assets impact the delivery of curriculum and capacity building among teachers. Our ultimate goal is to define those characteristics of successful partnerships that do contribute to enhanced interest and engagement by students in those careers that are currently experiencing critical shortages.

National survey of viruses in pastures of subterranean clover. II. Statistical methodology for large scale quantitative ELISA

Statistical methodology was applied to a survey of time-course incidence of four viruses (alfalfa mosaic virus, clover yellow vein virus, subterranean clover mottle virus and subterranean clover red leaf virus) in improved pastures in southern regions of Australia. -from Authors

Large-scale analysis of formations in soccer

Due to the demand for better and deeper analysis in sports, organizations (both professional teams and broadcasters) are looking to use spatiotemporal data in the form of player tracking information to obtain an advantage over their competitors. However, due to the large volume of data, its unstructured nature, and lack of associated team activity labels (e.g. strategic/tactical), effective and efficient strategies to deal with such data have yet to be deployed. A bottleneck restricting such solutions is the lack of a suitable representation (i.e. ordering of players) which is immune to the potentially infinite number of possible permutations of player orderings, in addition to the high dimensionality of temporal signal (e.g. a game of soccer last for 90 mins). Leveraging a recent method which utilizes a "role-representation", as well as a feature reduction strategy that uses a spatiotemporal bilinear basis model to form a compact spatiotemporal representation. Using this representation, we find the most likely formation patterns of a team associated with match events across nearly 14 hours of continuous player and ball tracking data in soccer. Additionally, we show that we can accurately segment a match into distinct game phases and detect highlights. (i.e. shots, corners, free-kicks, etc) completely automatically using a decision-tree formulation.

A stochastic thermostat algorithm for coarse-grained thermomechanical modeling of large-scale soft matters : theory and application to microfilaments

As all-atom molecular dynamics method is limited by its enormous computational cost, various coarse-grained strategies have been developed to extend the length scale of soft matters in the modeling of mechanical behaviors. However, the classical thermostat algorithm in highly coarse-grained molecular dynamics method would underestimate the thermodynamic behaviors of soft matters (e.g. microfilaments in cells), which can weaken the ability of materials to overcome local energy traps in granular modeling. Based on all-atom molecular dynamics modeling of microfilament fragments (G-actin clusters), a new stochastic thermostat algorithm is developed to retain the representation of thermodynamic properties of microfilaments at extra coarse-grained level. The accuracy of this stochastic thermostat algorithm is validated by all-atom MD simulation. This new stochastic thermostat algorithm provides an efficient way to investigate the thermomechanical properties of large-scale soft matters.

Ecological design with respect to the environment of large-scale marina developments in Queensland

Ecological principles have been employed to assist in the sustainability of a suite of 'gateway' marinas currently being developed in Queensland. Tasks included (a) location and fostering of core remnant native vegetation areas, (b) understanding the dynamic patterns of region behaviour using the ecological strategies employed by key flora and fauna species, (c) promoting those native wildlife species best characterising the region, and (d) allocating management actions along elongated buffer zones to the catchment headwaters (rather than only peripheral to the property). The design of infrastructure and its relationship to sustainable landscape development is lacking such a response int eh planning and detailing of new marinas. This paper distinguishes between the practice of landscape ecology and the design of ecological landscapes, offering examples of the principles of the latter in support of the concept of ecological landscape practice.

Supplementary material : large scale read classification for next generation sequencing

Next Generation Sequencing (NGS) has revolutionised molecular biology, resulting in an explosion of data sets and an increasing role in clinical practice. Such applications necessarily require rapid identification of the organism as a prelude to annotation and further analysis. NGS data consist of a substantial number of short sequence reads, given context through downstream assembly and annotation, a process requiring reads consistent with the assumed species or species group. Highly accurate results have been obtained for restricted sets using SVM classifiers, but such methods are difficult to parallelise and success depends on careful attention to feature selection. This work examines the problem at very large scale, using a mix of synthetic and real data with a view to determining the overall structure of the problem and the effectiveness of parallel ensembles of simpler classifiers (principally random forests) in addressing the challenges of large scale genomics.

Evaluating the use of a very large-scale presentation and collaboration framework

In this paper we describe the use and evaluation of CubIT, a multi-user, very large-scale presentation and collaboration framework. CubIT is installed at the Queensland University of Technology’s (QUT) Cube facility. The “Cube” is an interactive visualisation facility made up of five very large-scale interactive multi-panel wall displays, each consisting of up to twelve 55-inch multi-touch screens (48 screens in total) and massive projected display screens situated above the display panels. The paper outlines the unique design challenges, features, use and evaluation of CubIT. The system was built to make the Cube facility accessible to QUT’s academic and student population. CubIT enables users to easily upload and share their own media content, and allows multiple users to simultaneously interact with the Cube’s wall displays. The features of CubIT are implemented via three user interfaces, a multi-touch interface working on the wall displays, a mobile phone and tablet application and a web-based content management system. The evaluation reveals issues around the public use and functional scope of the system.

The analysis of large scale data taken from the world groundnut (Arachis hypogaea L.) germplasm collection I. Two-way quantitative data

Data associated with germplasm collections are typically large and multivariate with a considerable number of descriptors measured on each of many accessions. Pattern analysis methods of clustering and ordination have been identified as techniques for statistically evaluating the available diversity in germplasm data. While used in many studies, the approaches have not dealt explicitly with the computational consequences of large data sets (i.e. greater than 5000 accessions). To consider the application of these techniques to germplasm evaluation data, 11328 accessions of groundnut (Arachis hypogaea L) from the International Research Institute for the Semi-Arid Tropics, Andhra Pradesh, India were examined. Data for nine quantitative descriptors measured in the rainy and post-rainy growing seasons were used. The ordination technique of principal component analysis was used to reduce the dimensionality of the germplasm data. The identification of phenotypically similar groups of accessions within large scale data via the computationally intensive hierarchical clustering techniques was not feasible and non-hierarchical techniques had to be used. Finite mixture models that maximise the likelihood of an accession belonging to a cluster were used to cluster the accessions in this collection. The patterns of response for the different growing seasons were found to be highly correlated. However, in relating the results to passport and other characterisation and evaluation descriptors, the observed patterns did not appear to be related to taxonomy or any other well known characteristics of groundnut.

The analysis of large scale data taken from the world groundnut (Arachis hypogaea L.) germplasm collection. II. Two-way data with mixed data types

As a sequel to a paper that dealt with the analysis of two-way quantitative data in large germplasm collections, this paper presents analytical methods appropriate for two-way data matrices consisting of mixed data types, namely, ordered multicategory and quantitative data types. While various pattern analysis techniques have been identified as suitable for analysis of the mixed data types which occur in germplasm collections, the clustering and ordination methods used often can not deal explicitly with the computational consequences of large data sets (i.e. greater than 5000 accessions) with incomplete information. However, it is shown that the ordination technique of principal component analysis and the mixture maximum likelihood method of clustering can be employed to achieve such analyses. Germplasm evaluation data for 11436 accessions of groundnut (Arachis hypogaea L.) from the International Research Institute of the Semi-Arid Tropics, Andhra Pradesh, India were examined. Data for nine quantitative descriptors measured in the post-rainy season and five ordered multicategory descriptors were used. Pattern analysis results generally indicated that the accessions could be distinguished into four regions along the continuum of growth habit (or plant erectness). Interpretation of accession membership in these regions was found to be consistent with taxonomic information, such as subspecies. Each growth habit region contained accessions from three of the most common groundnut botanical varieties. This implies that within each of the habit types there is the full range of expression for the other descriptors used in the analysis. Using these types of insights, the patterns of variability in germplasm collections can provide scientists with valuable information for their plant improvement programs.