334 research outputs found
Verification and Validation of Semantic Annotations
In this paper, we propose a framework to perform verification and validation
of semantically annotated data. The annotations, extracted from websites, are
verified against the schema.org vocabulary and Domain Specifications to ensure
the syntactic correctness and completeness of the annotations. The Domain
Specifications allow checking the compliance of annotations against
corresponding domain-specific constraints. The validation mechanism will detect
errors and inconsistencies between the content of the analyzed schema.org
annotations and the content of the web pages where the annotations were found.Comment: Accepted for the A.P. Ershov Informatics Conference 2019(the PSI
Conference Series, 12th edition) proceedin
Decentralizing the Social Web
International audienceFor over a decade, standards bodies like the IETF and W3C have attempted to prevent the centralization of the Web via the use of open standards for 'permission-less innovation.' Yet today, these standards , from OAuth to RSS, seem to have failed to prevent the massive centralization of the Web at the hands of a few major corporations like Google and Facebook. We'll delve deep into the lessons of failed attempts to replace DNS like XRIs, identity systems like OpenID, and metadata formats like the Semantic Web, all of which were recuperated by centralized platforms like Facebook as Facebook Connect and the "Like" Button. Learning from the past, a new generation of blockchain standards and governance mechanisms may be our last, best chance to save the Web
Two New Loci for Body-Weight Regulation Identified in a Joint Analysis of Genome-Wide Association Studies for Early-Onset Extreme Obesity in French and German Study Groups
Meta-analyses of population-based genome-wide association studies (GWAS) in adults have recently led to the detection of new genetic loci for obesity. Here we aimed to discover additional obesity loci in extremely obese children and adolescents. We also investigated if these results generalize by estimating the effects of these obesity loci in adults and in population-based samples including both children and adults. We jointly analysed two GWAS of 2,258 individuals and followed-up the best, according to lowest p-values, 44 single nucleotide polymorphisms (SNP) from 21 genomic regions in 3,141 individuals. After this DISCOVERY step, we explored if the findings derived from the extremely obese children and adolescents (10 SNPs from 5 genomic regions) generalized to (i) the population level and (ii) to adults by genotyping another 31,182 individuals (GENERALIZATION step). Apart from previously identified FTO, MC4R, and TMEM18, we detected two new loci for obesity: one in SDCCAG8 (serologically defined colon cancer antigen 8 gene; p = 1.85610 x 10(-8) in the DISCOVERY step) and one between TNKS (tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase gene) and MSRA (methionine sulfoxide reductase A gene; p = 4.84 x 10(-7)), the latter finding being limited to children and adolescents as demonstrated in the GENERALIZATION step. The odds ratios for early-onset obesity were estimated at similar to 1.10 per risk allele for both loci. Interestingly, the TNKS/MSRA locus has recently been found to be associated with adult waist circumference. In summary, we have completed a meta-analysis of two GWAS which both focus on extremely obese children and adolescents and replicated our findings in a large followed-up data set. We observed that genetic variants in or near FTO, MC4R, TMEM18, SDCCAG8, and TNKS/MSRA were robustly associated with early-onset obesity. We conclude that the currently known major common variants related to obesity overlap to a substantial degree between children and adults
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DNA methylation-based classification of central nervous system tumours.
Accurate pathological diagnosis is crucial for optimal management of patients with cancer. For the approximately 100 known tumour types of the central nervous system, standardization of the diagnostic process has been shown to be particularly challenging-with substantial inter-observer variability in the histopathological diagnosis of many tumour types. Here we present a comprehensive approach for the DNA methylation-based classification of central nervous system tumours across all entities and age groups, and demonstrate its application in a routine diagnostic setting. We show that the availability of this method may have a substantial impact on diagnostic precision compared to standard methods, resulting in a change of diagnosis in up to 12% of prospective cases. For broader accessibility, we have designed a free online classifier tool, the use of which does not require any additional onsite data processing. Our results provide a blueprint for the generation of machine-learning-based tumour classifiers across other cancer entities, with the potential to fundamentally transform tumour pathology
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