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- Aartsen, M. G., et al.
(author)
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The IceCube Neutrino Observatory : instrumentation and online systems
- 2017
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In: Journal of Instrumentation. - : IOP PUBLISHING LTD. - 1748-0221. ; 12
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Journal article (peer-reviewed)abstract
- The IceCube Neutrino Observatory is a cubic-kilometer-scale high-energy neutrino detector built into the ice at the South Pole. Construction of IceCube, the largest neutrino detector built to date, was completed in 2011 and enabled the discovery of high-energy astrophysical neutrinos. We describe here the design, production, and calibration of the IceCube digital optical module (DOM), the cable systems, computing hardware, and our methodology for drilling and deployment. We also describe the online triggering and data filtering systems that select candidate neutrino and cosmic ray events for analysis. Due to a rigorous pre-deployment protocol, 98.4% of the DOMs in the deep ice are operating and collecting data. IceCube routinely achieves a detector uptime of 99% by emphasizing software stability and monitoring. Detector operations have been stable since construction was completed, and the detector is expected to operate at least until the end of the next decade.
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- Metcalfe, N. B., et al.
(author)
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Solving the conundrum of intra-specific variation in metabolic rate: A multidisciplinary conceptual and methodological toolkit New technical developments are opening the door to an understanding of why metabolic rate varies among individual animals of a species
- 2023
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In: Bioessays. - 0265-9247. ; 45:6
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Journal article (peer-reviewed)abstract
- Researchers from diverse disciplines, including organismal and cellular physiology, sports science, human nutrition, evolution and ecology, have sought to understand the causes and consequences of the surprising variation in metabolic rate found among and within individual animals of the same species. Research in this area has been hampered by differences in approach, terminology and methodology, and the context in which measurements are made. Recent advances provide important opportunities to identify and address the key questions in the field. By bringing together researchers from different areas of biology and biomedicine, we describe and evaluate these developments and the insights they could yield, highlighting the need for more standardisation across disciplines. We conclude with a list of important questions that can now be addressed by developing a common conceptual and methodological toolkit for studies on metabolic variation in animals.
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- Zeggini, Eleftheria, et al.
(author)
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Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
- 2008
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 40:5, s. 638-645
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Journal article (peer-reviewed)abstract
- Genome-wide association (GWA) studies have identified multiple loci at which common variants modestly but reproducibly influence risk of type 2 diabetes (T2D)(1-11). Established associations to common and rare variants explain only a small proportion of the heritability of T2D. As previously published analyses had limited power to identify variants with modest effects, we carried out meta-analysis of three T2D GWA scans comprising 10,128 individuals of European descent and similar to 2.2 million SNPs (directly genotyped and imputed), followed by replication testing in an independent sample with an effective sample size of up to 53,975. We detected at least six previously unknown loci with robust evidence for association, including the JAZF1 (P=5.0 x 10(-14)), CDC123-CAMK1D (P=1.2 x 10(-10)), TSPAN8-LGR5 (P=1.1 x 10(-9)), THADA (P=1.1 x 10(-9)), ADAMTS9 (P=1.2 x 10(-8)) and NOTCH2 (P=4.1 x 10(-8)) gene regions. Our results illustrate the value of large discovery and follow-up samples for gaining further insights into the inherited basis of T2D.
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- Tangeraas, T, et al.
(author)
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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
- 2020
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In: International journal of neonatal screening. - : MDPI AG. - 2409-515X. ; 6:3, s. 51-
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Journal article (peer-reviewed)abstract
- In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs). Between 1 March 2012 and 29 February 2020, 461,369 newborns were screened for 20 IEMs in addition to phenylketonuria (PKU). Excluding PKU, there were 75 true-positive (TP) (1:6151) and 107 (1:4311) false-positive IEM cases. Twenty-one percent of the TP cases were symptomatic at the time of the NBS results, but in two-thirds, the screening result directed the exact diagnosis. Eighty-two percent of the TP cases had good health outcomes, evaluated in 2020. The yearly positive predictive value was increased from 26% to 54% by the use of the Region 4 Stork post-analytical interpretive tool (R4S)/Collaborative Laboratory Integrated Reports 2.0 (CLIR), second-tier biochemical testing and genetic confirmation using DNA extracted from the original dried blood spots. The incidence of IEMs increased by 46% after eNBS was introduced, predominantly due to the finding of attenuated phenotypes. The next step is defining which newborns would truly benefit from screening at the milder end of the disease spectrum. This will require coordinated international collaboration, including proper case definitions and outcome studies.
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- Tikkanen, T, et al.
(author)
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Curriculum in kindergarten? : Literacy learning and use of ICT with small children
- 2013
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In: 23rd EECERA Conference: Values, Culture and Contexts. ; , s. 80-81
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Conference paper (other academic/artistic)abstract
- Research aims: Mapping of (i) the status of the “kindergarten curriculum” in the participating countries in terms of policies, attitudes and practice in the area of early literacy learning, and the use of ICT to this end; (ii) the job competence of the pedagogical staff in kindergartens in the above regards.Relationship to previous research works: Relevant research from all five participating countries has contributed to building of the survey. For example studies on children’s play with and exploration of digital tools (digital photos, tablet PC) (Bølgan, 2009b; Jernes, Alvestad, & Sinnerud, 2010; Knudsen & Eriksen Ødegaard, 2011), on use of and access to digital tools (Bølgan, 2009), on children’s activity with a PC (DIGOB - Engelsen, Jernes, Kvinge, Vangsnes,& Økland, 2012), and on how to integrate digital tools in a play-based curriculum in kindergartens (Siraj-Blatchford, 2006) and on how children use social media and tablet pc (Kamp, 2013).Theoretical and conceptual framework: The work builds on a social-constructivist and socio-cultural theories on learning.Paradigm, methodology and methods: The study is based on an electronic survey, carried out in April 2013 in all countries participating in CHILDICT. A convenience sample was used.Ethical considerations: None.Main finding or discussion: The findings from the survey are not yet available. They will be compared across the participating countries. The discussion will be based on reflections from each country.Implications, practice or policy: To Teacher Training Institutions, local authorities, kindergartens, and further research.
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