Clarity from Confusion: Using Intended Interactions to Design Information Systems

Two tools are described that help designers visualize the structure of a system in the requirements phase of a project. First, a matrix is constructed that represents the tendency of components to interact. The matrix is derived from sequence diagrams, which in turn are based on textual scenarios. This interaction matrix is transformed into a structure plot of the system, showing a graph of the essential connections between actors. Second, this same matrix is used to generate a sequence plot: a sequence diagram optimized for problem-solving. We illustrate the effectiveness of this approach, first with a simulation study, and later with a participant-based study of inference from diagrams. The results suggest that a similarity-based approach to information systems design can generate new testable tools. Pragmatically, the tools help novices and experts alike by automatically generating candidate system configurations in the form of structural diagrams, and by generating better sequence diagrams

The Spatial Nature of Thought: Understanding Systems Design Through Diagrams

Design entails the interaction of minds and the tools used to express the design, notably, diagrams. Systems designers use the affordances of the page when they generate structural diagrams of systems. Specifically, they use proximity to augment connectedness (path) information by grouping subsystems. They use horizontal position on the page to express sequence and vertical position to reflect actual spatial position. Finally, they use the permanence of diagrams to generate alternative designs. These conclusions were reached through the analysis of work by student designers, many of whom were practicing information technology professionals. The analysis of designs in topological and Euclidean space required the creation of computational tools that show promise as decision aids for designers, by separating the intertwined qualities of topological and Euclidean space, and by making visible the conceptual similarity of design alternatives

Matching Mechanisms to Situations Through the Wisdom of the Crowd

Designing a system often begins with matching existing solutions to current problems. Specifically, integration mechanisms are mapped onto situations. Novices are not good at this task, and experts are rare. Could crowdsourcing, that is, aggregating the suggestions of individuals working independently, be effective? Two experiments, one with design students in a classroom, and another with participants on the web, demonstrated that the crowd possesses wisdom about how to match mechanisms to situations. Participants also categorized situations, and those who name their categories were better at matching than those who didn’t. The results have pragmatic implications, suggesting it is possible to crowdsource design, and providing new ways of eliciting, testing, and training expertise. More generally, the paper suggests a new model for information system design based on analogical mapping

Detection of Potential Transit Signals in the First Three Quarters of Kepler Mission Data

We present the results of a search for potential transit signals in the first three quarters of photometry data acquired by the Kepler Mission. The targets of the search include 151,722 stars which were observed over the full interval and an additional 19,132 stars which were observed for only 1 or 2 quarters. From this set of targets we find a total of 5,392 detections which meet the Kepler detection criteria: those criteria are periodicity of the signal, an acceptable signal-to-noise ratio, and a composition test which rejects spurious detections which contain non-physical combinations of events. The detected signals are dominated by events with relatively low signal-to-noise ratio and by events with relatively short periods. The distribution of estimated transit depths appears to peak in the range between 40 and 100 parts per million, with a few detections down to fewer than 10 parts per million. The detected signals are compared to a set of known transit events in the Kepler field of view which were derived by a different method using a longer data interval; the comparison shows that the current search correctly identified 88.1% of the known events. A tabulation of the detected transit signals, examples which illustrate the analysis and detection process, a discussion of future plans and open, potentially fruitful, areas of further research are included

Daily MODIS 500 m Reflectance Anisotropy Direct Broadcast (DB) Products for Monitoring Vegetation Phenology Dynamics

Land surface vegetation phenology is an efficient bio-indicator for monitoring ecosystem variation in response to changes in climatic factors. The primary objective of the current article is to examine the utility of the daily MODIS 500 m reflectance anisotropy direct broadcast (DB) product for monitoring the evolution of vegetation phenological trends over selected crop, orchard, and forest regions. Although numerous model-fitted satellite data have been widely used to assess the spatio-temporal distribution of land surface phenological patterns to understand phenological process and phenomena, current efforts to investigate the details of phenological trends, especially for natural phenological variations that occur on short time scales, are less well served by remote sensing challenges and lack of anisotropy correction in satellite data sources. The daily MODIS 500 m reflectance anisotropy product is employed to retrieve daily vegetation indices (VI) of a 1 year period for an almond orchard in California and for a winter wheat field in northeast China, as well as a 2 year period for a deciduous forest region in New Hampshire, USA. Compared with the ground records from these regions, the VI trajectories derived from the cloud-free and atmospherically corrected MODIS Nadir BRDF (bidirectional reflectance distribution function) adjusted reflectance (NBAR) capture not only the detailed footprint and principal attributes of the phenological events (such as flowering and blooming) but also the substantial inter-annual variability. This study demonstrates the utility of the daily 500 m MODIS reflectance anisotropy DB product to provide daily VI for monitoring and detecting changes of the natural vegetation phenology as exemplified by study regions comprising winter wheat, almond trees, and deciduous forest

Sequencing of sporadic Attention‐Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/137575/1/ajmgb32527.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/137575/2/ajmgb32527_am.pd

Strong signature of natural selection within an FHIT intron implicated in prostate cancer risk

Previously, a candidate gene linkage approach on brother pairs affected with prostate cancer identified a locus of prostate cancer susceptibility at D3S1234 within the fragile histidine triad gene (FHIT), a tumor suppressor that induces apoptosis. Subsequent association tests on 16 SNPs spanning approximately 381 kb surrounding D3S1234 in Americans of European descent revealed significant evidence of association for a single SNP within intron 5 of FHIT. In the current study, resequencing and genotyping within a 28.5 kb region surrounding this SNP further delineated the association with prostate cancer risk to a 15 kb region. Multiple SNPs in sequences under evolutionary constraint within intron 5 of FHIT defined several related haplotypes with an increased risk of prostate cancer in European-Americans. Strong associations were detected for a risk haplotype defined by SNPs 138543, 142413, and 152494 in all cases (Pearson's χ2 = 12.34, df 1, P = 0.00045) and for the homozygous risk haplotype defined by SNPs 144716, 142413, and 148444 in cases that shared 2 alleles identical by descent with their affected brothers (Pearson's χ2 = 11.50, df 1, P = 0.00070). In addition to highly conserved sequences encompassing SNPs 148444 and 152413, population studies revealed strong signatures of natural selection for a 1 kb window covering the SNP 144716 in two human populations, the European American (π = 0.0072, Tajima's D= 3.31, 14 SNPs) and the Japanese (π = 0.0049, Fay & Wu's H = 8.05, 14 SNPs), as well as in chimpanzees (Fay & Wu's H = 8.62, 12 SNPs). These results strongly support the involvement of the FHIT intronic region in an increased risk of prostate cancer. © 2008 Ding et al

Screening for Familial APP Mutations in Sporadic Cerebral Amyloid Angiopathy

Background Advances in genetic technology have revealed that variation in the same gene can cause both rare familial and common sporadic forms of the same disease. Cerebral amyloid angiopathy (CAA), a common cause of symptomatic intracerebral hemorrhage (ICH) in the elderly, can also occur in families in an autosomal dominant pattern. The majority of affected families harbor mutations in the Beta amyloid Peptide (Aβ) coding region of the gene for amyloid precursor protein (APP) or have duplications of chromosomal segments containing APP. Methodology/Principal Findings A total of 58 subjects with a diagnosis of probable or definite CAA according to validated criteria were included in the present study. We sequenced the Aβ coding region of APP in 58 individuals and performed multiplex ligation-dependent probe amplification to determine APP gene dosage in 60. No patient harbored a known or novel APP mutation or gene duplication. The frequency of mutations investigated in the present study is estimated to range from 0% to 8% in individuals with probable CAA in the general population, based on the ascertained sample size. Conclusions/Significance We found no evidence that variants at loci associated with familial CAA play a role in sporadic CAA. Based on our findings, these rare highly-penetrant mutations are unlikely to be seen in sporadic CAA patients. Therefore, our results do not support systematic genetic screening of CAA patients who lack a strong family history of hemorrhage or dementia.National Institute of Neurological Disorders and Stroke (U.S.) (grant K23NS042695)American Heart AssociationAmerican Stroke Association (Bugher Foundation for Stroke Prevention Research

Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project

Waist-to-hip ratio (WHR), a relative comparison of waist and hip circumferences, is an easily accessible measurement of body fat distribution, in particular central abdominal fat. A high WHR indicates more intra-abdominal fat deposition and is an established risk factor for cardiovascular disease and type 2 diabetes. Recent genome-wide association studies have identified numerous common genetic loci influencing WHR, but the contributions of rare variants have not been previously reported. We investigated rare variant associations with WHR in 1510 European-American and 1186 African-American women from the National Heart, Lung, and Blood Institute-Exome Sequencing Project. Association analysis was performed on the gene level using several rare variant association methods. The strongest association was observed for rare variants in IKBKB (P=4.0 × 10−8) in European-Americans, where rare variants in this gene are predicted to decrease WHRs. The activation of the IKBKB gene is involved in inflammatory processes and insulin resistance, which may affect normal food intake and body weight and shape. Meanwhile, aggregation of rare variants in COBLL1, previously found to harbor common variants associated with WHR and fasting insulin, were nominally associated (P=2.23 × 10−4) with higher WHR in European-Americans. However, these significant results are not shared between African-Americans and European-Americans that may be due to differences in the allelic architecture of the two populations and the small sample sizes. Our study indicates that the combined effect of rare variants contribute to the inter-individual variation in fat distribution through the regulation of insulin response