11,866 research outputs found
Service-oriented models for audiovisual content storage
No full textWhat are the important topics to understand if involved with storage services to hold digital audiovisual content? This report takes a look at how content is created and moves into and out of storage; the storage service value networks and architectures found now and expected in the future; what sort of data transfer is expected to and from an audiovisual archive; what transfer protocols to use; and a summary of security and interface issues
Diagnostic imaging in patients with paragangliomas. Computed tomography, magnetic resonance and MIBG scintigraphy comparison
No full textOverstap van RD naar ETRS89: Kans of dreiging?
No full textDe voortgaande digitalisering en globalisering hebben ertoe geleid dat steeds vaker hardop de vraag wordt gesteld of Nederland voor de opslag en uitwisseling van gegevens zou moeten overstappen van het nationale RD-stelsel naar het meer internationaal georiënteerde ETRS89.OTB ResearchOTB Research Institute for the Built Environmen
A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
No full textPurpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods: Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results: We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion: The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock.</p
An epistle to the author of The four farthing candles: By the author of The Rosciad of C-v-nt-G-rd-n.
No full text12p. ; 4⁰.The author of The Rosciad of C-v-nt-G-rd-n = Charles Churchill.With a half-title.Reproduction of original from the Huntington Library.English Short Title Catalog, ESTCN1512.Electronic data. Farmington Hills, Mich. : Thomson Gale, 2003. Page image (PNG). Digitized image of the microfilm version produced in Woodbridge, CT by Research Publications, 1982-2002 (later known as Primary Source Microfilm, an imprint of the Gale Group)
Une interprétation diachronique de la « dislocation à droite » dans les langues romanes
No full textRaffaele Simone: Une interprétation diachronique de la "dislocation à droite" dans les langues romanes
This paper claims that Right Dislocation (RD), as documented in Romance Languages, is not a movement phenomenon, but the result of associated processes: a change of sentence boundaries by reanalysis, and a change in pragmatic function of the constituents involved. As a consequence, RD starts by being a means for focussing a nominal 'dislocated' constituent, and ends by working as a tool for focussing the verb constituent, so changing variationally its nature, from marked to unmarked structure.Simone Raffaele. Une interprétation diachronique de la « dislocation à droite » dans les langues romanes. In: Langue française, n°115, 1997. La variation en syntaxe, sous la direction de Françoise Gadet. pp. 48-61
Performance Measurement of Collaborative Research and Development: An Exploratory Analysis
No full textCollaborative research and development (RD) requires specific management approaches in several aspects including the measurement of RD performance. This paper aims to contribute to the debate on how performance of different types of collaborative RD activities should be measured. To this end, we conduct an exploratory research based on case studies, involving four cases of multinational companies in different fields. We show that firms use performance measurement systems for collaborative RD which are different compared to the ones used for non-collaborative RD. Furthermore, such performance measurement systems differ depending on the type of collaborative RD projects that companies are involved in
Embassy of us: Finding and delivering relevance
No full textThe present graduating project showcase the development of a method for relevant exhibition experiences. The specific goal of this method is to allow exhibition developers in museums, embassies and cultural institutions to identify the elements that are involved in a relevant exhibition experience. This identification is essential in cases where exhibitions are going to present elements (expressions) that are from different parts of the world, which is the project's scenario. In order to proceed with the project, a collaboration between the Peruvian Embassy in the Netherlands, the Museum Volkenkunde and the Cervantes Institute in Utrecht was established. A research process was conducted to understand the ideas of relevance, local and foreign, visitors based on motivations and cooperation between institutions. In this process, a study about immersive technologies was also conducted. The method uses two significant concepts from the research process: On one hand, Universal themes, and, on the other hand, activities' nature identification through immersive theory. A tool with similar characteristics to a tabletop game was elaborated to use the method. The tool and method were tested at different times to improve them. For the last sessions, physical and digital versions of the tool were developed. The sessions focused on the use of the method and tool with upcoming exhibitions and for conceptualising future exhibitions. These upcoming and conceptual exhibitions were proposed by the different institutions in Peru and the Netherlands. In addition, the tool was analysed by cultural managers in Peru to see the tool's capabilities as part of museum practices and cultural policies. The tool proved useful, as it was capable of adapting to the different needs, goals and concerns of each institution. The potential of using the tool not only as an exhibition method but also as a tool for the classification of cultural expressions based on topics present an interesting opportunity for cultural institutions.https://nagnil.wixsite.com/c-rd Cross-Relevance Diamond. First version of the digital versionDesign for Interactio
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
No full textAbstract: Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilized 10-fold coverage HiFi long-read sequencing (LRS) for detecting causative structural variants (SVs), single-nucleotide variants (SNVs), insertion-deletions (indels), and short tandem repeat (STR) expansions in previously studied RD families without a clear molecular diagnosis. Our cohort includes 293 individuals from 114 genetically undiagnosed RD families selected by European Reference Network (ERN) experts. Of these, 21 families were affected by so-called \u201cunsolvable\u201d syndromes for which genetic causes remain unknown and for which prior testing was not a prerequisite. The remaining 93 families had at least one individual affected by a rare neurological, neuromuscular, or epilepsy disorder without a genetic diagnosis despite extensive prior testing. Clinical interpretation and orthogonal validation of variants in known disease genes yielded 12 novel genetic diagnoses due to de novo and rare inherited SNVs, indels, SVs, and STR expansions. In an additional five families, we identified a candidate disease-causing variant, including an MCF2/FGF13 fusion and a PSMA3 deletion. However, no common genetic cause was identified in any of the \u201cunsolvable\u201d syndromes. Taken together, we found (likely) disease-causing genetic variants in 11.8% of previously unsolved families and additional candidate disease-causing SVs in another 5.4% of these families. In conclusion, our results demonstrate the potential added value of HiFi long-read genome sequencing in undiagnosed rare diseases
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