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元数据
  • 文章类型: Journal Article
    皮肤黑色素瘤是全球第17大最常见的癌症。早期发现可疑皮肤病变(黑色素瘤)可使5年生存率提高20%。7点检查表(7PCL)已被广泛用于建议可能患有黑色素瘤的患者的紧急转诊。然而,7PCL方法仅考虑7个meta特征来计算风险评分,并且仅与疑似黑色素瘤患者相关.关于广泛使用患者元数据来检测所有皮肤癌亚型的研究有限。这项研究调查了人工智能(AI)模型,该模型利用由23个属性组成的患者元数据进行可疑皮肤病变检测。我们已经确定了一组新的最重要的风险因素,即“C4C危险因素”,不仅仅是黑色素瘤,而是针对所有类型的皮肤癌.将用于可疑皮肤病变检测的C4C危险因素的性能与7PCL和预测黑色素瘤终生风险的Williams危险因素的性能进行比较。我们提出的AI框架整合了五个机器学习模型,并识别了七个新的皮肤癌风险因素:病变粉红色,病变大小,病变颜色,病变发炎,病变形状,病变年龄,和自然的头发颜色,当使用从英国不同皮肤癌诊断诊所收集的53,601个皮肤病变的元数据进行评估时,其检测可疑皮肤病变的灵敏度为80.46±2.50%,特异性为62.09±1.90%,显著优于基于7PCL的方法(灵敏度68.09±2.10%,特异性61.07±0.90%)和威廉姆斯危险因素(敏感性66.32±1.90%,特异性61.71±0.6%)。此外,通过加权七个新的风险因素,我们得出了一个新的风险评分,即“C4C风险评分”,单独的灵敏度为76.09±1.20%,特异性为61.71±0.50%,显著优于基于7PCL的风险评分(灵敏度73.91±1.10%,特异性49.49±0.50%)和Williams风险评分(敏感性60.68±1.30%,特异性60.87±0.80%)。最后,将C4C危险因素与7PCL和Williams危险因素融合,取得了最佳表现,敏感性为85.24±2.20%,特异性为61.12±0.90%。我们认为,将这些新发现的风险因素和新的风险评分与图像数据融合,将进一步提高可疑皮肤病变检测的AI模型性能。因此,一组新的皮肤癌危险因素有可能被用来修改目前所有皮肤癌亚型的皮肤癌转诊指南,包括黑色素瘤.
    Melanoma of the skin is the 17th most common cancer worldwide. Early detection of suspicious skin lesions (melanoma) can increase 5-year survival rates by 20%. The 7-point checklist (7PCL) has been extensively used to suggest urgent referrals for patients with a possible melanoma. However, the 7PCL method only considers seven meta-features to calculate a risk score and is only relevant for patients with suspected melanoma. There are limited studies on the extensive use of patient metadata for the detection of all skin cancer subtypes. This study investigates artificial intelligence (AI) models that utilise patient metadata consisting of 23 attributes for suspicious skin lesion detection. We have identified a new set of most important risk factors, namely \"C4C risk factors\", which is not just for melanoma, but for all types of skin cancer. The performance of the C4C risk factors for suspicious skin lesion detection is compared to that of the 7PCL and the Williams risk factors that predict the lifetime risk of melanoma. Our proposed AI framework ensembles five machine learning models and identifies seven new skin cancer risk factors: lesion pink, lesion size, lesion colour, lesion inflamed, lesion shape, lesion age, and natural hair colour, which achieved a sensitivity of 80.46 ± 2.50 % and a specificity of 62.09 ± 1.90 % in detecting suspicious skin lesions when evaluated using the metadata of 53,601 skin lesions collected from different skin cancer diagnostic clinics across the UK, significantly outperforming the 7PCL-based method (sensitivity 68.09 ± 2.10 % , specificity 61.07 ± 0.90 % ) and the Williams risk factors (sensitivity 66.32 ± 1.90 % , specificity 61.71 ± 0.6 % ). Furthermore, through weighting the seven new risk factors we came up with a new risk score, namely \"C4C risk score\", which alone achieved a sensitivity of 76.09 ± 1.20 % and a specificity of 61.71 ± 0.50 % , significantly outperforming the 7PCL-based risk score (sensitivity 73.91 ± 1.10 % , specificity 49.49 ± 0.50 % ) and the Williams risk score (sensitivity 60.68 ± 1.30 % , specificity 60.87 ± 0.80 % ). Finally, fusing the C4C risk factors with the 7PCL and Williams risk factors achieved the best performance, with a sensitivity of 85.24 ± 2.20 % and a specificity of 61.12 ± 0.90 % . We believe that fusing these newly found risk factors and new risk score with image data will further boost the AI model performance for suspicious skin lesion detection. Hence, the new set of skin cancer risk factors has the potential to be used to modify current skin cancer referral guidelines for all skin cancer subtypes, including melanoma.
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  • 文章类型: Journal Article
    稳定同位素数据对物理和自然科学的几乎每个学科都做出了重要贡献。随着稳定同位素数据的产生和应用继续呈指数级增长,因此,需要一个统一的数据存储库来提高可访问性和促进协作参与。本文对设计进行了概述,发展,和IsoBank的实施(www。isobank.org),一项由社区驱动的倡议,旨在为2021年在线实施的稳定同位素数据创建一个开放存取存储库。IsoBank的中心目标是提供一个可通过网络访问的数据库,支持跨学科的稳定同位素研究和教育机会。为了实现这一目标,我们召集了一个由40多名分析专家组成的多学科小组,稳定同位素研究人员,数据库管理员,和Web开发人员协作设计数据库。本文概述了IsoBank的主要功能,并对核心元数据结构进行了重点描述。我们提出了未来数据库和工具开发以及整个科学界参与的计划。这些努力将有助于促进稳定同位素数据的许多用户之间的跨学科合作,同时还提供有用的数据资源和跨生态地理信息学景观的元数据报告标准化。
    Stable isotope data have made pivotal contributions to nearly every discipline of the physical and natural sciences. As the generation and application of stable isotope data continues to grow exponentially, so does the need for a unifying data repository to improve accessibility and promote collaborative engagement. This paper provides an overview of the design, development, and implementation of IsoBank (www.isobank.org), a community-driven initiative to create an open-access repository for stable isotope data implemented online in 2021. A central goal of IsoBank is to provide a web-accessible database supporting interdisciplinary stable isotope research and educational opportunities. To achieve this goal, we convened a multi-disciplinary group of over 40 analytical experts, stable isotope researchers, database managers, and web developers to collaboratively design the database. This paper outlines the main features of IsoBank and provides a focused description of the core metadata structure. We present plans for future database and tool development and engagement across the scientific community. These efforts will help facilitate interdisciplinary collaboration among the many users of stable isotopic data while also offering useful data resources and standardization of metadata reporting across eco-geoinformatics landscapes.
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  • 文章类型: Journal Article
    背景:从临床常规中重复使用临床数据是医学信息学领域中的一个研究课题,术语“二次使用”。为了确保数据的正确使用和解释,需要数据收集的背景信息和对数据的一般理解。元数据作为定义和维护上下文的有效方法的使用已得到很好的确立,特别是在临床试验领域。本文的目的是研究一种使用元数据整合常规临床数据的方法。
    方法:为此,从医院信息系统中提取的临床表格将转换为FHIR格式。特别关注元数据存储库(MDR)的一致使用。
    结果:开发了一种使用MDR系统的基于元数据的方法,以简化数据集成以及将结构化表单映射到FHIR资源中,同时在灵活性和数据质量方面提供许多优势。这促进了逻辑和定义在一个地方的管理和配置,启用数据的可重用性和二次使用。
    结论:这项工作允许在不丢失细节的情况下传输数据元素,并简化了与目标格式的集成。该方法适用于其他ETL过程,并且消除了在目标配置文件中格式化问题的需要。
    BACKGROUND: The reuse of clinical data from clinical routine is a topic of research within the field of medical informatics under the term secondary use. In order to ensure the correct use and interpretation of data, there is a need for context information of data collection and a general understanding of the data. The use of metadata as an effective method of defining and maintaining context is well-established, particularly in the field of clinical trials. The objectives of this paper is to examine a method for integrating routine clinical data using metadata.
    METHODS: To this end, clinical forms extracted from a hospital information system will be converted into the FHIR format. A particular focus is placed on the consistent use of a metadata repository (MDR).
    RESULTS: A metadata-based approach using an MDR system was developed to simplify data integration and mapping of structured forms into FHIR resources, while offering many advantages in terms of flexibility and data quality. This facilitated the management and configuration of logic and definitions in one place, enabling the reusability and secondary use of data.
    CONCLUSIONS: This work allows the transfer of data elements without loss of detail and simplifies integration with target formats. The approach is adaptable for other ETL processes and eliminates the need for formatting concerns in the target profile.
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  • 文章类型: Journal Article
    背景:NFDI4Health是由德国研究基金会资助的财团,旨在根据FAIR原则使结构化健康数据在国际上可查找和可访问。它的目标是将数据用户和数据持有组织(DHO)聚集在一起。它主要考虑进行流行病学和公共卫生研究或临床试验的DHO。
    方法:为此类DHO提供了本地数据中心(LDH),以将其组织内的分散本地研究数据管理与通过集中式NFDI4Health服务(如德国中央健康研究中心)发布可共享元数据的选项连接起来。LDH平台基于FAIRDOMSEEK,提供了一个完整而灵活的,健康研究数据的本地受控数据和信息管理平台。已开发出适用于研究及其相应资源的量身定制的NFDI4Health元数据模式,该模式由LDH软件完全支持,例如,元数据传输到其他NFDI4Health服务。
    结果:除了现有的SEEK元数据结构之外,SEEK平台已经在技术上得到了增强,以支持针对用户社区需求而定制的扩展元数据结构。
    结论:对于LDH和MDS,NFDI4Health为所有DHO提供了一个标准化、免费和开源的研究数据管理平台,用于结构化健康数据的FAIR交换。
    BACKGROUND: NFDI4Health is a consortium funded by the German Research Foundation to make structured health data findable and accessible internationally according to the FAIR principles. Its goal is bringing data users and Data Holding Organizations (DHOs) together. It mainly considers DHOs conducting epidemiological and public health studies or clinical trials.
    METHODS: Local data hubs (LDH) are provided for such DHOs to connect decentralized local research data management within their organizations with the option of publishing shareable metadata via centralized NFDI4Health services such as the German central Health Study Hub. The LDH platform is based on FAIRDOM SEEK and provides a complete and flexible, locally controlled data and information management platform for health research data. A tailored NFDI4Health metadata schema for studies and their corresponding resources has been developed which is fully supported by the LDH software, e.g. for metadata transfer to other NFDI4Health services.
    RESULTS: The SEEK platform has been technically enhanced to support extended metadata structures tailored to the needs of the user communities in addition to the existing metadata structuring of SEEK.
    CONCLUSIONS: With the LDH and the MDS, the NFDI4Health provides all DHOs with a standardized and free and open source research data management platform for the FAIR exchange of structured health data.
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  • 文章类型: Journal Article
    背景:本地数据中心(LDH)是用于医学研究(元)数据的FAIR共享的平台。为了促进LDH在不同研究社区的使用,重要的是要了解特定领域的需求,目前用于数据组织的解决方案,并为无缝上传到LDH提供支持。在这项工作中,我们分析了微神经成像的用例,这是一种分析神经活动的电生理学技术。
    方法:在与显微神经成像研究人员对话中进行需求分析后,我们提出了概念映射和工作流,让研究人员转换和上传他们的元数据。Further,我们实现了对odMLtables的半自动上传扩展,一种基于模板的工具,用于处理电生理社区中的元数据。
    结果:开源实现实现了odML到LDH的概念映射,允许从工具中匿名化数据,并在基础数据集上创建自定义摘要。
    结论:这是将改进的FAIR流程整合到研究实验室的日常工作流程中的第一步。在今后的工作中,我们将这种方法扩展到其他用例,以在更大的研究社区中传播LDH的使用。
    BACKGROUND: The Local Data Hub (LDH) is a platform for FAIR sharing of medical research (meta-)data. In order to promote the usage of LDH in different research communities, it is important to understand the domain-specific needs, solutions currently used for data organization and provide support for seamless uploads to a LDH. In this work, we analyze the use case of microneurography, which is an electrophysiological technique for analyzing neural activity.
    METHODS: After performing a requirements analysis in dialogue with microneurography researchers, we propose a concept-mapping and a workflow, for the researchers to transform and upload their metadata. Further, we implemented a semi-automatic upload extension to odMLtables, a template-based tool for handling metadata in the electrophysiological community.
    RESULTS: The open-source implementation enables the odML-to-LDH concept mapping, allows data anonymization from within the tool and the creation of custom-made summaries on the underlying data sets.
    CONCLUSIONS: This concludes a first step towards integrating improved FAIR processes into the research laboratory\'s daily workflow. In future work, we will extend this approach to other use cases to disseminate the usage of LDHs in a larger research community.
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  • 文章类型: Journal Article
    随着高通量技术的发展,基因组学数据集的规模迅速增长,包括功能基因组学数据。这允许训练大型深度学习(DL)模型来预测表观遗传读数,如蛋白质结合或组蛋白修饰,来自基因组序列。然而,大数据集大小是以数据一致性为代价的,经常汇总大量研究的结果,在不同的实验条件下进行。虽然来自大规模联盟的数据是有用的,因为它们可以研究不同生物条件的影响,它们也可能包含来自混杂的实验因素的不必要的偏见。这里,我们引入了元数据引导的特征解开(MFD)-一种方法,可以从潜在的技术偏见中解开生物学相关特征。MFD将目标元数据集成到模型训练中,通过在不同的实验因子上调节模型输出层的权重。然后将因素分为不相交的组,并通过对抗性学习的惩罚来增强相应特征子空间的独立性。我们证明了元数据驱动的解开方法可以更好地进行模型自省,通过将潜在特征与实验因素联系起来,不妥协,甚至提高下游任务的性能,如增强器预测,或遗传变异发现。该代码将在https://github.com/HealthML/MFD上提供。
    With the development of high-throughput technologies, genomics datasets rapidly grow in size, including functional genomics data. This has allowed the training of large Deep Learning (DL) models to predict epigenetic readouts, such as protein binding or histone modifications, from genome sequences. However, large dataset sizes come at a price of data consistency, often aggregating results from a large number of studies, conducted under varying experimental conditions. While data from large-scale consortia are useful as they allow studying the effects of different biological conditions, they can also contain unwanted biases from confounding experimental factors. Here, we introduce Metadata-guided Feature Disentanglement (MFD)-an approach that allows disentangling biologically relevant features from potential technical biases. MFD incorporates target metadata into model training, by conditioning weights of the model output layer on different experimental factors. It then separates the factors into disjoint groups and enforces independence of the corresponding feature subspaces with an adversarially learned penalty. We show that the metadata-driven disentanglement approach allows for better model introspection, by connecting latent features to experimental factors, without compromising, or even improving performance in downstream tasks, such as enhancer prediction, or genetic variant discovery. The code will be made available at https://github.com/HealthML/MFD.
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  • 文章类型: English Abstract
    High-grade serous ovarian cancer has a high degree of malignancy, and at detection, it is prone to infiltration of surrounding soft tissues, as well as metastasis to the peritoneum and lymph nodes, peritoneal seeding, and distant metastasis. Whether recurrence occurs becomes an important reference for surgical planning and treatment methods for this disease. Current recurrence prediction models do not consider the potential pathological relationships between internal tissues of the entire ovary. They use convolutional neural networks to extract local region features for judgment, but the accuracy is low, and the cost is high. To address this issue, this paper proposes a new lightweight deep learning algorithm model for predicting recurrence of high-grade serous ovarian cancer. The model first uses ghost convolution (Ghost Conv) and coordinate attention (CA) to establish ghost counter residual (SCblock) modules to extract local feature information from images. Then, it captures global information and integrates multi-level information through proposed layered fusion Transformer (STblock) modules to enhance interaction between different layers. The Transformer module unfolds the feature map to compute corresponding region blocks, then folds it back to reduce computational cost. Finally, each STblock module fuses deep and shallow layer depth information and incorporates patient\'s clinical metadata for recurrence prediction. Experimental results show that compared to the mainstream lightweight mobile visual Transformer (MobileViT) network, the proposed slicer visual Transformer (SlicerViT) network improves accuracy, precision, sensitivity, and F1 score, with only 1/6 of the computational cost and half the parameter count. This research confirms that the proposed algorithm model is more accurate and efficient in predicting recurrence of high-grade serous ovarian cancer. In the future, it can serve as an auxiliary diagnostic technique to improve patient survival rates and facilitate the application of the model in embedded devices.
    高级别浆液性卵巢癌恶性程度高,检出时易发生周围软组织浸润、腹腔与淋巴结转移、腹膜种植和远处转移,是否复发成为该疾病手术计划与治疗手段的重要参考依据。目前的复发预测模型未考虑整个卵巢内部组织之间的潜在病理关系,通常使用较为复杂的卷积神经网络提取局部区域特征进行判断,准确率不高且成本开销大。针对此问题,本文提出了一种新的面向高级别浆液性卵巢癌复发预测的轻量级深度算法模型。该模型先使用鬼影卷积(Ghost Conv)和坐标注意力(CA)建立鬼影倒残差模块(SCblock)提取图像的局部特征信息,然后通过提出的分层融合变换器(Transformer)模块(STblock)进行全局信息的捕捉与多层次信息的融合,提升不同层之间的交互能力;Transformer模块则通过先展开特征图使其对应区域块进行计算,再折叠还原,以此降低计算成本开销。最后,将每个STblock模块进行深浅层的深度信息融合,并加入患者的临床元数据共同进行复发预测。实验结果表明,相较于主流的轻量级移动视觉Transformer网络(MobileViT),本文提出的切片视觉Transformer网络(SlicerViT)在准确率、精确率、灵敏度、F1分数上均有提高,计算量仅为其1/6,参数量降低1/2。本文研究证实了所提算法模型在高级别浆液性卵巢癌的复发预测上更加精确高效,未来可作为一种辅助诊断技术提高患者生存率,并有利于将模型应用于嵌入式设备。.
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  • 文章类型: Journal Article
    光照对人体健康有显著影响,调节我们的生物钟,睡眠-觉醒周期和其他生理过程。随着可穿戴光记录仪和剂量计的出现,对现实世界光暴露效果的研究正在增长。迫切需要标准化跨研究的数据收集和文档。
    本文提出了一种新的元数据描述符,旨在捕获使用可穿戴光记录器和剂量计收集的个性化曝光数据集中的关键信息。描述符,由国际专家共同开发,具有模块化结构,可用于未来的扩展和定制。它涵盖四个关键领域:研究设计,参与者特征,数据集详细信息,和设备规格。每个域都包括用于全面文档的特定元数据字段。用户友好的描述符以JSON格式提供。Web界面简化了生成兼容的JSON文件以实现广泛的可访问性。版本控制允许将来的改进。
    我们的元数据描述符使研究人员能够通过使其光剂量测定数据集正确(可查找,可访问,可互操作和可重复使用)。最终,它的采用将提高我们对光照如何影响现实世界环境中人类生理和行为的理解。
    UNASSIGNED: Light exposure significantly impacts human health, regulating our circadian clock, sleep-wake cycle and other physiological processes. With the emergence of wearable light loggers and dosimeters, research on real-world light exposure effects is growing. There is a critical need to standardize data collection and documentation across studies.
    UNASSIGNED: This article proposes a new metadata descriptor designed to capture crucial information within personalized light exposure datasets collected with wearable light loggers and dosimeters. The descriptor, developed collaboratively by international experts, has a modular structure for future expansion and customization. It covers four key domains: study design, participant characteristics, dataset details, and device specifications. Each domain includes specific metadata fields for comprehensive documentation. The user-friendly descriptor is available in JSON format. A web interface simplifies generating compliant JSON files for broad accessibility. Version control allows for future improvements.
    UNASSIGNED: Our metadata descriptor empowers researchers to enhance the quality and value of their light dosimetry datasets by making them FAIR (findable, accessible, interoperable and reusable). Ultimately, its adoption will advance our understanding of how light exposure affects human physiology and behaviour in real-world settings.
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  • 文章类型: Journal Article
    生成模型的最新进展为增强自然和医学图像的生成铺平了道路,包括合成大脑核磁共振成像。然而,当前AI研究的主要重点是在视觉质量(例如信噪比)方面优化合成MRI,而缺乏对其与神经科学相关性的见解。为了生成与神经科学发现相关的高质量T1加权MRI,我们提出了一个两阶段扩散概率模型(称为BrainSynth)来合成有条件依赖于元数据(如年龄和性别)的高分辨率MRI.然后,我们提出了一种新的程序来评估BrainSynth的质量,根据其合成MRI对大脑区域宏观结构特性的捕获程度以及它们对年龄和性别的影响进行编码的准确性。结果表明,在我们的合成MRI中,超过一半的大脑区域在解剖学上是合理的,即,相对于年龄和性别等生物学因素,真实和合成MRI之间的影响大小较小。此外,解剖的合理性在皮质区域根据其几何复杂性而变化。如是,BrainSynth生成的MRI显著改善了预测模型的训练,以识别独立研究中的加速老化效应.这些结果表明,我们的模型准确地捕获了大脑的解剖信息,因此可以丰富研究中代表性不足的样本的数据。BrainSynth的代码将作为MONAI项目的一部分在https://github.com/Project-MONAI/GenerativeModels发布。
    Recent advances in generative models have paved the way for enhanced generation of natural and medical images, including synthetic brain MRIs. However, the mainstay of current AI research focuses on optimizing synthetic MRIs with respect to visual quality (such as signal-to-noise ratio) while lacking insights into their relevance to neuroscience. To generate high-quality T1-weighted MRIs relevant for neuroscience discovery, we present a two-stage Diffusion Probabilistic Model (called BrainSynth) to synthesize high-resolution MRIs conditionally-dependent on metadata (such as age and sex). We then propose a novel procedure to assess the quality of BrainSynth according to how well its synthetic MRIs capture macrostructural properties of brain regions and how accurately they encode the effects of age and sex. Results indicate that more than half of the brain regions in our synthetic MRIs are anatomically plausible, i.e., the effect size between real and synthetic MRIs is small relative to biological factors such as age and sex. Moreover, the anatomical plausibility varies across cortical regions according to their geometric complexity. As is, the MRIs generated by BrainSynth significantly improve the training of a predictive model to identify accelerated aging effects in an independent study. These results indicate that our model accurately capture the brain\'s anatomical information and thus could enrich the data of underrepresented samples in a study. The code of BrainSynth will be released as part of the MONAI project at https://github.com/Project-MONAI/GenerativeModels.
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  • 文章类型: Journal Article
    根据DAPHNE4NFDI,X射线吸收光谱(XAS)参考数据库,RefXAS,已经设置好了。为此,我们开发了一种方法,使用户能够提交原始数据集,与其关联的元数据,通过一个专门的网站纳入数据库。数据库的实现包括将元数据上传到科学目录和通过对象存储上传文件,通过Web服务器和数据和文件的可视化自动查询功能。根据测量模式,已经为自动检查任何上传数据制定了质量标准。在目前的工作中,用于可重用性的重要元数据字段,以及结果的可重复性(公平数据原则),正在讨论。已制定并评估了上传到数据库的数据的质量标准。此外,已经探索了可用XAS数据/文件格式的可用性和互操作性。介绍了RefXAS数据库原型的第一个版本,它具有人工验证程序,目前正在通过专门为策展人设计的新用户界面进行测试;用户友好的着陆页;完整的数据集列表;高级搜索功能;简化的上传过程;以及,最后,通过MongoDB的服务器端自动身份验证和(元)数据存储,PostgreSQL和(data-)文件通过相关的API。
    Under DAPHNE4NFDI, the X-ray absorption spectroscopy (XAS) reference database, RefXAS, has been set up. For this purpose, we developed a method to enable users to submit a raw dataset, with its associated metadata, via a dedicated website for inclusion in the database. Implementation of the database includes an upload of metadata to the scientific catalogue and an upload of files via object storage, with automated query capabilities through a web server and visualization of the data and files. Based on the mode of measurements, quality criteria have been formulated for the automated check of any uploaded data. In the present work, the significant metadata fields for reusability, as well as reproducibility of results (FAIR data principles), are discussed. Quality criteria for the data uploaded to the database have been formulated and assessed. Moreover, the usability and interoperability of available XAS data/file formats have been explored. The first version of the RefXAS database prototype is presented, which features a human verification procedure, currently being tested with a new user interface designed specifically for curators; a user-friendly landing page; a full list of datasets; advanced search capabilities; a streamlined upload process; and, finally, a server-side automatic authentication and (meta-) data storage via MongoDB, PostgreSQL and (data-) files via relevant APIs.
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