112 research outputs found

    Using MOOCs to Promote Digital Accessibility and Universal Design, the MOOCAP Experience

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    The recently completed Massive Open Online Course for Accessibility Partnership project (MOOCAP), had the twin aims of establishing a strategic partnership around the promotion of Universal Design and Accessibility for ICT professionals and of developing a suite of Open Educational resources (OERs) in this domain. MOOCAP\u27s eight university partners from Germany, Norway, Greece, Ireland, the UK and Austria have a significant history in developing and providing courses in the domains of Universal Design and Accessibility, as well as leading research and advocacy roles within Europe. The MOOCAP project consisted of two phases: the development of an introductory MOOC on Digital Accessibility and the delivery of set of online courses with more in-depth and focused learning topics. During the lifetime of the project over 10,000 students signed up for these courses. This paper reflects on the challenges of creating and delivering MOOCs, especially in topics around Digital Accessibility and Universal Design. It considers the outcomes, impacts and legacies of the project. Based on our experiences of integrating these materials into our courses and on feedback and project evaluations, this paper will assess the potential of MOOCs to promote Universal Design for ICT and other professionals, while pointing up the possible trials and opportunities of such activities

    Information systems for primary health care: the case of the Aegean islands

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    ARResT/Interrogate: an interactive immunoprofiler for IG/TR NGS data.

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    Abstract Motivation The study of immunoglobulins and T cell receptors using next-generation sequencing has finally allowed exploring immune repertoires and responses in their immense variability and complexity. Unsurprisingly, their analysis and interpretation is a highly convoluted task. Results We thus implemented ARResT/Interrogate, a web-based, interactive application. It can organize and filter large amounts of immunogenetic data by numerous criteria, calculate several relevant statistics, and present results in the form of multiple interconnected visualizations. Availability and Implementation ARResT/Interrogate is implemented primarily in R, and is freely available at http://bat.infspire.org/arrest/interrogate/ Supplementary information Supplementary data are available at Bioinformatics online

    Quality control and quantification in IG/TR next-generation sequencing marker identification: protocols and bioinformatic functionalities by EuroClonality-NGS

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    Assessment of clonality, marker identification and measurement of minimal residual disease (MRD) of immunoglobulin (IG) and T cell receptor (TR) gene rearrangements in lymphoid neoplasms using next-generation sequencing (NGS) is currently under intensive development for use in clinical diagnostics. So far, however, there is a lack of suitable quality control (QC) options with regard to standardisation and quality metrics to ensure robust clinical application of such approaches. The EuroClonality-NGS Working Group has therefore established two types of QCs to accompany the NGS-based IG/TR assays. First, a central polytarget QC (cPT-QC) is used to monitor the primer performance of each of the EuroClonality multiplex NGS assays; second, a standardised human cell line-based DNA control is spiked into each patient DNA sample to work as a central in-tube QC and calibrator for MRD quantification (cIT-QC). Having integrated those two reference standards in the ARResT/Interrogate bioinformatic platform, EuroClonality-NGS provides a complete protocol for standardised IG/TR gene rearrangement analysis by NGS with high reproducibility, accuracy and precision for valid marker identification and quantification in diagnostics of lymphoid malignancies.This work was supported by Ministry of Health of the Czech Republic, grant no. 16-34272A; computational resources were provided by the CESNET LM2015042 and the CERIT Scientific Cloud LM2015085, provided under the programme “Projects of Large Research, Development, and Innovations Infrastructures”. Analyses in Prague (JT, EF and MS) were supported by Ministry of Health, Czech Republic, grant no. 00064203, and by PRIMUS/17/MED/11. Analyses in the Monza (Centro Ricerca Tettamanti, SS, AG and GC) laboratory were supported by the Italian Association for Cancer Research (AIRC) and Comitato Maria Letizia Verga

    Implementing responsible innovation: the role of the meso-level(s) between project and organisation

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    Much of academic discussion of responsible innovation (RI) has focused on RI integration into research projects. In addition, significant attention has also been paid to RI structures and policies at the research policy and institutional level. This article reports experiences of RI implementation with a focus on the intermediate i.e. meso-level. The research described here included a series of interviews that aimed to clarify researchers' perspectives on RI as well as barriers to and benefits of RI implementation. Two cases of engagement with research projects, with the aim of promoting RI, were undertaken. The analysis of the data demonstrates the crucial contribution that the meso-level of a research programme can make in interpreting, implementing and perpetuating RI across related activities. The article provides strong evidence that the scholarly debate surrounding RI should pay more explicit attention to this meso-level, ultimately strengthening RI theory and practice

    Genetic drivers in the natural history of chronic lymphocytic leukemia development as early as 16 years before diagnosis

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    Chronic lymphocytic leukemia (CLL) is preceded by monoclonal B-cell lymphocytosis (MBL), a potential CLL precursor state which can be detected in up to 17% in aged individuals. Recently, we described significant B-cell receptor immunoglobulin heavy chain (BCR IGH) gene repertoire skewing and clonotypic evolution up to 22 years before CLL diagnosis. However, pathobiological drivers during the earliest stages of MBL development remain incompletely characterized. In this study, we utilized the EuroClonality-NDC panel to sequence recurrently mutated genes in CLL in 39 peripheral blood samples from 16 CLL patients sampled up to 16 years prior to diagnosis. CLL diagnosis ranged from 5 months to 16 years after first blood sampling. Of 16 CLL patients, 8 (50%) presented with variants of interest in genes recurrently mutated in CLL such as NOTCH1, ATM, and SF3B1 . ATM variants and the IGLV3-21R110 mutation were present from the early stages of (pre)MBL development, while NOTCH1, SF3B1, and XPO1 variants arose closer to diagnosis. We additionally detected variants in FAT1 and PLCG2 as early as 10 years prior to CLL diagnosis. Overall, our data shows specific genetic drivers of CLL are associated with early and late stages of CLL development
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