7 research outputs found

    Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci

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    Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25610-8), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genomewide significant association

    Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract

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    Nuclear cataract is the most common type of age-related cataract and a leading cause of blindness worldwide. Age-related nuclear cataract is heritable (h2 = 0.48), but little is known about specific genetic factors underlying this condition. Here we report findings from the largest to date multi-ethnic meta-analysis of genome-wide association studies (discovery cohort N = 14,151 and replication N = 5299) of the International Cataract Genetics Consortium. We confirmed the known genetic association of CRYAA (rs7278468, P = 2.8 × 10−16) with nuclear cataract and identified five new loci associated with this disease: SOX2-OT (rs9842371, P = 1.7 × 1

    A fault-tolerant approach to secure information retrieval

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    Several private information retrieval (PIR) schemes were proposed to protect users' privacy when sensitive information stored in database servers is retrieved. However, existing PIR schemes assume that any attack to the servers does not change the information stored and any computational results. We present a novel fault-tolerant PIR scheme (called FT-PIR) that protects users' privacy and at the same time ensures service availability in the presence of malicious server faults. Our scheme neither relies on any unproven cryptographic assumptions nor the availability of tamper-proof hardware. A probabilistic verification function is introduced into the scheme to detect corrupted results. Unlike previous PIR research that attempted mainly to demonstrate the theoretical feasibility of PIR, we have actually implemented both a PIR scheme and our FT-PIR scheme in a distributed database environment. The experimental and analytical results show that only modest performance overhead is introduced by FT-PIR while comparing with PIR in the fault-free cases. The FT-PIR scheme tolerates a variety of server faults effectively. In certain fail-stop fault scenarios, FT-PIR performs even better than PIR. It was observed that 35.82% less processing time was actually needed for FT-PIR to tolerate one server fault

    Rapid metabolic discrimination and prediction of dioscin content from African yam tubers using Fourier transforminfrared spectroscopy combined with multivariate analysis

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    To determine whether or not FT-IR spectroscopy could be used for taxonomic and metabolic discriminationof African yam lines, tuber samples from African and Asian yam species were subjected to FT-IR.Most remarkable spectral differences between African and Asian yams were found in the 1750–1700 cm 1 region, polysaccharide (1200–900 cm 1) and protein/amide I and II (1700–1500 cm 1) regionsof FT-IR spectra. A hierarchical dendrogram based on partial least square-discriminant analysis (PLS-DA)of FT-IR data from 7 African yam species show phylogenetic relationship. In addition, the content of dioscin,a steroidal saponin found in yam tuber, was predicted using a PLS regression model with regressioncoefficient R2 = 0.7208 indicated that prediction model had average accuracy. Thus, considering theseresults we suggest that FT-IR combined with multivariate analysis could be applied as a novel tool formetabolic evaluation and high-throughput screening of African yam lines with higher content of dioscin

    Supporting human-centered design in psychologically distant problem domains: The design for cybersecurity cards

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    Increasingly digital products and services make cybersecurity a crucial issue for designers. However, human-centered designers struggle to consider it in their work, partially a consequence of the high psychological distance between designers and cybersecurity. In this work, we build on the Design for Cybersecurity (DfC) Cards, an intervention to help designers consider cybersecurity, and examine a project-based design course to understand how and why specific DfC cards were used. Three findings result. First, designers found the intervention useful across all design phases and activities. Second, the cards helped design teams refocus their attention on the problem domain and project outcome. Third, we identify a need for support in framing and converging during user research, opportunity identification, and prototyping. We argue that the psychological distance between designers and the problem space of cybersecurity partially explains these findings, and ultimately exacerbates existing challenges in the design process. These findings suggest that design interventions must consider the psychological distance between designer and problem space, and have application in design practice across many complex problem domains.Marketing and Consumer Researc
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