80 research outputs found

    The introduction and refinement of the assessment of digitally recorded audio presentations

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    This case study critically evaluates benefits and challenges of a form of assessment included in a final year undergraduate Religious Studies Open University module, which combines a written essay task with a digital audio recording of a short oral presentation. Based on the analysis of student and tutor feedback and sample assignments, this study critically examines how teaching and learning practices linked to this novel form of assessment have been iteratively developed in light of the project findings over a period of two years. It concludes that while this form of assessment poses a number of challenges, it can create valuable opportunities for the development of transferable twenty-first-century graduate employability skills as well as deep, effective learning experiences, particularly – though not exclusively – in distance learning settings

    Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach

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    BACKGROUND: Mapping DNaseI hypersensitive sites is commonly used to identify regulatory regions in the genome. However, currently available methods are either time consuming and laborious, expensive or require large numbers of cells. We aimed to develop a quick and straightforward method for the analysis of DNaseI hypersensitive sites that overcomes these problems. RESULTS: We have developed a modified Multiplex Ligation-dependent Probe Amplification (MLPA) approach for the identification and analysis of genomic regulatory regions. The utility of this approach was demonstrated by simultaneously analysing 20 loci from the ENCODE project for DNaseI hypersensitivity in a range of different cell lines. We were able to obtain reproducible results with as little as 5 x 10(4) cells per DNaseI treatment. Our results broadly matched those previously reported by the ENCODE project, and both technical and biological replicates showed high correlations, indicating the sensitivity and reproducibility of this method. CONCLUSION: This new method will considerably facilitate the identification and analysis of DNaseI hypersensitive sites. Due to the multiplexing potential of MLPA (up to 50 loci can be examined) it is possible to analyse dozens of DNaseI hypersensitive sites in a single reaction. Furthermore, the high sensitivity of MLPA means that fewer than 10(5) cells per DNaseI treatment can be used, allowing the discovery and analysis of tissue specific regulatory regions without the need for pooling. This method is quick and easy and results can be obtained within 48 hours after harvesting of cells or tissues. As no special equipment is required, this method can be applied by any laboratory interested in the analysis of DNaseI hypersensitive regions

    Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

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    Disorders of sex development (DSDs) encompass a broad spectrum of conditions affecting the development of the gonads and genitalia. The underlying causes for DSDs include gain or loss of function variants in genes responsible for gonad development or steroidogenesis. Most patients with DSD have an unknown genetic etiology and cannot be given an
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