345 research outputs found

    Sharing, and reusing quality information of individual digital datasets

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    Open-source science builds on open and free resources that include data, metadata, software, and workflows. Informed decisions on whether and how to (re)use digital datasets are dependent on an understanding about the quality of the underpinning data and relevant information. However, quality information, being difficult to curate and often context specific, is currently not readily available for sharing within and across disciplines. To help address this challenge and promote the creation and (re)use of freely and openly shared information about the quality of individual datasets, members of several groups around the world have undertaken an effort to develop international community guidelines with practical recommendations for the Earth science community, collaborating with international domain experts. The guidelines were inspired by the guiding principles of being findable, accessible, interoperable, and reusable (FAIR). Use of the FAIR dataset quality information guidelines is intended to help stakeholders, such as scientific data centers, digital data repositories, and producers, publishers, stewards and managers of data, to: i) capture, describe, and represent quality information of their datasets in a manner that is consistent with the FAIR Guiding Principles; ii) allow for the maximum discovery, trust, sharing, and reuse of their datasets; and iii) enable international access to and integration of dataset quality information. This article describes the processes that developed the guidelines that are aligned with the FAIR principles, presents a generic quality assessment workflow, describes the guidelines for preparing and disseminating dataset quality information, and outlines a path forward to improve their disciplinary diversity.The development and baseline of the community FAIR-DQI guidelines document would not have been possible without the voluntary and dedicated effort of the domain experts of the International FAIR-DQI Community Guidelines Working Group. We would like to thank all members of the working group for their interest, participation, and contribution.Peer Reviewed"Article signat per 11 autors/es: Ge Peng , Carlo Lacagnina, Robert R. Downs, Anette Ganske, Hampapuram K. Ramapriyan, Ivana IvĂĄnovĂĄ, Lesley Wyborn, Dave Jones, Lucy Bastin, Chung-lin Shie, David F. Moroni"Postprint (published version

    Global Community Guidelines for Documenting, Sharing, and Reusing Quality Information of Individual Digital Datasets

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    Open-source science builds on open and free resources that include data, metadata, software, and workflows. Informed decisions on whether and how to (re)use digital datasets are dependent on an understanding about the quality of the underpinning data and relevant information. However, quality information, being difficult to curate and often context specific, is currently not readily available for sharing within and across disciplines. To help address this challenge and promote the creation and (re) use of freely and openly shared information about the quality of individual datasets, members of several groups around the world have undertaken an effort to develop international community guidelines with practical recommendations for the Earth science community, collaborating with international domain experts. The guidelines were inspired by the guiding principles of being findable, accessible, interoperable, and reusable (FAIR). Use of the FAIR dataset quality information guidelines is intended to help stakeholders, such as scientific data centers, digital data repositories, and producers, publishers, stewards and managers of data, to: i) capture, describe, and represent quality information of their datasets in a manner that is consistent with the FAIR Guiding Principles; ii) allow for the maximum discovery, trust, sharing, and reuse of their datasets; and iii) enable international access to and integration of dataset quality information. This article describes the processes that developed the guidelines that are aligned with the FAIR principles, presents a generic quality assessment workflow, describes the guidelines for preparing and disseminating dataset quality information, and outlines a path forward to improve their disciplinary diversity

    Call to action for global access to and harmonization of quality information of individual earth science datasets

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    Knowledge about the quality of data and metadata is important to support informed decisions on the (re)use of individual datasets and is an essential part of the ecosystem that supports open science. Quality assessments reflect the reliability and usability of data. They need to be consistently curated, fully traceable, and adequately documented, as these are crucial for sound decision-and policy-making efforts that rely on data. Quality assessments also need to be consistently represented and readily integrated across systems and tools to allow for improved sharing of information on quality at the dataset level for individual quality attribute or dimension. Although the need for assessing the quality of data and associated information is well recognized, methodologies for an evaluation framework and presentation of resultant quality information to end users may not have been comprehensively addressed within and across disciplines. Global interdisciplinary domain experts have come together to systematically explore needs, challenges and impacts of consistently curating and representing quality information through the entire lifecycle of a dataset. This paper describes the findings of that effort, argues the importance of sharing dataset quality information, calls for community action to develop practical guidelines, and outlines community recommendations for developing such guidelines. Practical guidelines will allow for global access to and harmonization of quality information at the level of individual Earth science datasets, which in turn will support open science

    The p.V37I Exclusive Genotype Of GJB2: A Genetic Risk-Indicator of Postnatal Permanent Childhood Hearing Impairment

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    Postnatal permanent childhood hearing impairment (PCHI) is frequent (0.25%–0.99%) and difficult to detect in the early stage, which may impede the speech, language and cognitive development of affected children. Genetic tests of common variants associated with postnatal PCHI in newborns may provide an efficient way to identify those at risk. In this study, we detected a strong association of the p.V37I exclusive genotype of GJB2 with postnatal PCHI in Chinese Hans (P = 1.4×10−10; OR 62.92, 95% CI 21.27–186.12). This common genotype in Eastern Asians was present in a substantial percentage (20%) of postnatal PCHI subjects, and its prevalence was significantly increased in normal-hearing newborns who failed at least one newborn hearing screen. Our results indicated that the p.V37I exclusive genotype of GJB2 may cause subclinical hearing impairment at birth and increases risk for postnatal PCHI. Genetic testing of GJB2 in East Asian newborns will facilitate prompt detection and intervention of postnatal PCHI

    Spectral Graph Analysis for Process Monitoring

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    Process monitoring is a fundamental task to support operator decisions under ab- normal situations. Most process monitoring approaches, such as Principal Components Analysis and Locality Preserving Projections, are based on dimensionality reduction. In this paper Spectral Graph Analysis Monitoring (SGAM) is introduced. SGAM is a new process monitoring technique that does not require dimensionality reduction techniques. The approach it is based on the spectral graph analysis theory. Firstly, a weighted graph representation of process measurements is developed. Secondly, the process behavior is parameterized by means of graph spectral features, in particular the graph algebraic connectivity and the graph spectral energy. The developed methodology has been illustrated in autocorrelated and non-linear synthetic cases, and applied to the well known Tennessee Eastman process benchmark with promising results.Fil: Musulin, Estanislao. Consejo Nacional de Investigaciones CientĂ­ficas y TĂ©cnicas. Centro CientĂ­fico TecnolĂłgico Rosario. Centro Internacional Franco Argentino de Ciencias de la InformaciĂłn y Sistemas; Argentin

    Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

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    Background: Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity. However, little is currently known about the full spectrum of comorbidities that affect these patients and available literature is limited to small case series. This study aimed to use a large international sample to examine the prevalence in this disorder of comorbidities of epilepsy, gastrointestinal problems including feeding difficulties, sleep and respiratory problems and scoliosis and their relationships with age and genotype. Prevalence and onset were also compared with those occurring in Rett syndrome. Methods: Data for the CDKL5 disorder and Rett syndrome were sourced from the International CDKL5 Disorder Database (ICDD), InterRett and the Australian Rett syndrome Database (ARSD). Logistic regression (multivariate and univariate) was used to analyse the relationships between age group, mutation type and the prevalence of various comorbidities. Binary longitudinal data from the ARSD and the equivalent cross-sectional data from ICDD were examined using generalized linear models with generalized estimating equations. The Kaplan-Meier method was used to estimate the failure function for the two disorders and the log-rank test was used to compare the two functions. Results: The likelihood of experiencing epilepsy, GI problems, respiratory problems, and scoliosis in the CDKL5 disorder increased with age and males were more vulnerable to respiratory and sleep problems than females. We did not identify any statistically significant relationships between mutation group and prevalence of comorbidities. Epilepsy, GI problems and sleep abnormalities were more common in the CDKL5 disorder than in Rett syndrome whilst scoliosis and respiratory problems were less prevalent. Conclusion: This study captured a much clearer picture of the CDKL5 disorder than previously possible using the largest sample available to date. There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome, reinforcing the concept that CDKL5 is an independent disorder with its own distinctive characteristics

    Endothelial dysfunction in obese non-hypertensive children without evidence of sleep disordered breathing

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    <p>Abstract</p> <p>Background</p> <p>Endothelial dysfunction is a complication of both obesity and obstructive sleep apnea syndrome (OSAS), the latter being highly prevalent among obese children. It is unknown whether obesity causes endothelial dysfunction in children in the absence of OSAS. This study examines endothelial function in obese and non-obese children without OSAS.</p> <p>Methods</p> <p>Pre-pubertal non-hypertensive children were recruited. Endothelial function was assessed in a morning fasted state, using a modified hyperemic test involving cuff-induced occlusion of the radial and ulnar arteries. The absence of OSAS was confirmed by overnight polysomnography. Anthropometry was also performed.</p> <p>Results</p> <p>55 obese children (mean age 8.6 ± 1.4 years, mean BMI z-score: 2.3 ± 0.3) were compared to 50 non-obese children (mean age 8.0 ± 1.6 years, mean BMI z-score 0.3 ± 0.9). Significant delays to peak capillary reperfusion after occlusion release occurred in obese compared to non-obese children (45.3 ± 21.9 sec <it>vs</it>. 31.5 ± 14.1 sec, p < 0.01), but no differences in the magnitude of hyperemia emerged. Time to peak reperfusion and percentage of body fat were positively correlated (r = 0.365, p < 0.01).</p> <p>Conclusions</p> <p>Our findings confirm that endothelial dysfunction occurs early in life in obese children, even in the absence of OSAS. Thus, mechanisms underlying endothelial dysfunction in pediatric obesity are operational in the absence of sleep-disordered breathing.</p
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