23,313 research outputs found

    Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definition

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    BACKGROUND: The selection of markers in association studies can be informed through the use of haplotype blocks. Recent reports have determined the genomic architecture of chromosomal segments through different haplotype block definitions based on linkage disequilibrium (LD) measures or haplotype diversity criteria. The relative applicability of distinct block definitions to association studies, however, remains unclear. We compared different block definitions in 6.1 Mb of chromosome 17q in 189 unrelated healthy individuals. Using 137 single nucleotide polymorphisms (SNPs), at a median spacing of 15.5 kb, we constructed haplotype block maps using published methods and additional methods we have developed. Haplotype tagging SNPs (htSNPs) were identified for each map. RESULTS: Blocks were found to be shorter and coverage of the region limited with methods based on LD measures, compared to the method based on haplotype diversity. Although the distribution of blocks was highly variable, the number of SNPs that needed to be typed in order to capture the maximum number of haplotypes was consistent. CONCLUSION: For the marker spacing used in this study, choice of block definition is not important when used as an initial screen of the region to identify htSNPs. However, choice of block definition has consequences for the downstream interpretation of association study results

    Normal background concentrations (NBCs) of contaminants in English soils : final project report

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    The British Geological Survey (BGS) has been commissioned by the Department for Environment, Food and Rural Affairs (Defra) to give guidance on what are normal levels of contaminants in English soils in support of the Part 2A Contaminated Land Statutory Guidance. This has initially been done by studying the distribution of four contaminants – arsenic, lead, benzo[a]pyrene (BaP) and asbestos – in topsoils from England. This work was extended to a further four contaminants (cadmium, copper, nickel and mercury) which enabled methodologies developed to be tested on a larger range of contaminants. The first phase of the Project gathered data sets that were: nationally extensive; systematically collected so a broad range of land uses were represented; and collected and analysed to demonstrably and acceptable levels of quality. Information on the soil contaminant concentrations in urban areas was of particular importance as the normal background is considered to be a combination of both natural and diffuse anthropogenic contributions to the soil. Issues of soil quality are most important in areas where these affect most people, namely, the urban environment. The two principal data sets used in this work are the BGS Geochemical Baseline Survey of the Environment (G-BASE) rural and urban topsoils (37,269 samples) and the English NSI (National Soil Inventory) topsoils (4,864 samples) reanalysed at the BGS laboratories by X-ray fluorescence spectrometry (XRFS) so both data sets were highly compatible. These two data sets provide results for most inorganic element contaminants, though results explored for mercury and BaP are drawn from a variety of different and much less extensive data sets

    The suppression of galactose metabolism in Trypanosoma cruzi epimastigotes causes changes in cell surface molecular architecture and cell morphology.

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    The cell surface of the epimastigote form of Trypanosoma cruzi is covered by glycoconjugates rich in galactose. The parasite cannot take up galactose through its hexose transporter, suggesting that the epimerisation of UDP-glucose to UDP-galactose may be the parasite's only route to this sugar. The T. cruzi UDP-glucose 4'-epimerase is encoded by the TcGALE gene. We were unable to make a CL-Brener strain T. cruzi epimastigote TcGALE-/- null mutant, suggesting that the gene is essential. Two TcGALE+/- single-allele knockout clones displayed aberrant morphology and haploid deficiency with respect to galactose metabolism. The morphological phenotypes included shortened flagella, increased incidence of spheromastigotes, agglutination and a novel walnut-like appearance. The reduced supply of UDP-galactose was manifest in the two clones as a six- or nine-fold reduction in the expression of galactopyranose-containing cell surface mucins and negligible or two-fold reduction in the expression of galactofuranose-containing glycoinositolphospholipids. The major loss of mucins as opposed to glycoinositolphospholipids may indicate that the latter are more important for basic parasite survival in culture. The apparent haploid deficiency suggests that epimerase levels are close to limiting, at least in the epimastigote form, and might be exploited as a potential drug target

    Permanent Peoples’ Tribunal – Session on: Workers and Consumers Rights in the Garment Industry

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    A report from the International Forum on Clean Clothes, outlining the status of human and labor rights in the garment industry and presenting proposals for improvement

    Identity crime and misuse in Australia: results of the 2013 online survey

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    Abstract: Identity crime and misuse of personal information affect all sectors in Australia and cost individuals, business and government many millions of dollars annually. In May 2013, in order to explore the nature and scope of identity crime and misuse in Australia, the Australian Institute of Criminology was commissioned by the Attorney-General’s Department to undertake a national survey. This report presents the results of the survey. The findings confirm prior research that has found that identity crime affects a relatively high proportion of Australians who report substantial financial and other impacts

    An Experimental Digital Library Platform - A Demonstrator Prototype for the DigLib Project at SICS

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    Within the framework of the Digital Library project at SICS, this thesis describes the implementation of a demonstrator prototype of a digital library (DigLib); an experimental platform integrating several functions in one common interface. It includes descriptions of the structure and formats of the digital library collection, the tailoring of the search engine Dienst, the construction of a keyword extraction tool, and the design and development of the interface. The platform was realised through sicsDAIS, an agent interaction and presentation system, and is to be used for testing and evaluating various tools for information seeking. The platform supports various user interaction strategies by providing: search in bibliographic records (Dienst); an index of keywords (the Keyword Extraction Function (KEF)); and browsing through the hierarchical structure of the collection. KEF was developed for this thesis work, and extracts and presents keywords from Swedish documents. Although based on a comparatively simple algorithm, KEF contributes by supplying a long-felt want in the area of Information Retrieval. Evaluations of the tasks and the interface still remain to be done, but the digital library is very much up and running. By implementing the platform through sicsDAIS, DigLib can deploy additional tools and search engines without interfering with already running modules. If wanted, agents providing other services than SICS can supply, can be plugged in
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