20 research outputs found
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Isn't a number and a URL enough? Why PIDs matter and technical solutions alone are not sufficient
In the presentation, we introduce the two projects PID4NFDI and PID Network Germany that deal with PIDs at the national level, present some initial findings and highlight their benefit for NFDI. PIDs are used and needed along the entire lifecycle of research data: from enabling to connecting. However, a particular focus for the presentation will be laid on harmonising and connecting
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Handreichung Technik und Infastrukturen
In der vorliegenden Handreichung stellen wir unterschiedliche technische Ressourcen vor, die redaktionelle Arbeiten unterstützen können. Dabei empfiehlt es sich, Software und Systeme zu nutzen, die den Wandel hin zu einer offenen, niederschwelligen und nachhaltigen Wissenschaftskultur fördern. Hierzu zählt in erster Linie die Verwendung von Open-Source-Software. Unsere Empfehlungen haben dabei eine begrenzte Reichweite: Serviceanbieter, Software und Projekte sind zu einem späteren Zeitpunkt ggf. nicht mehr verfügbar. Auch sind gerade die Infrastruktureinrichtungen in das föderale Wissenschaftssystem integriert, was sie bestimmten Unwägbarkeiten aussetzt
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Workshop on PIDs within NFDI: Report of the Working Group “Persistent Identifiers (PID)” of the Section Common Infrastructures of the NFDI
In order to gain an overview of the current state of the discussion on PIDs and for the identification of use cases for the initiation phase of a PID service within the NFDI basic services, the working group Persistent Identifier of the Section Common Infrastructures of the NFDI hosted an online workshop in January 2023. In the course of the workshop, members of nine different NFDI consortia presented the current application of PIDs in their consortia
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PID Network Deutschland: Netzwerk für die Förderung von persistenten Identifikatoren in Wissenschaft und Kultur
[No abstract available
Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation
Nutzung persistenter Identifikatoren in Forschungsinformationssystemen (CRIS)
Vortrag im Rahmen der
Initiative „Stärkung von Forschungsinformationssystemen (CRIS) in den Einrichtungen der Leibniz-Gemeinschaft“
CRIS Tage, 18. - 19. September 2023, BerlinVortragsfolien auf Deutsch und Englisc
Isn't a number and a URL enough? Why PIDs matter and technical solutions alone are not sufficient
Schrader AC, Hagemann-Wilholt S, Czerniak A. Isn't a number and a URL enough? Why PIDs matter and technical solutions alone are not sufficient. Presented at the 1st Conference on Research Data Infrastructure, Karlsruhe, Germany.In the presentation, we introduce the two projects PID4NFDI and PID Network Germany that deal with PIDs at the national level, present some initial findings and highlight their benefit for NFDI. PIDs are used and needed along the entire lifecycle of research data: from enabling to connecting. However, a particular focus for the presentation will be laid on harmonising and connecting.</p