| 1. |
- Aad, G., et al.
(författare)
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- 2013
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Tidskriftsartikel (refereegranskat)
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| 2. |
- Bates, R. L., et al.
(författare)
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The ATLAS SCT grounding and shielding concept and implementation
- 2012
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Ingår i: Journal of Instrumentation. - 1748-0221. ; 7, s. P03005-
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Tidskriftsartikel (refereegranskat)abstract
- This paper describes the design and implementation of the grounding and shielding system for the ATLAS SemiConductor Tracker (SCT). The mitigation of electromagnetic interference and noise pickup through power lines is the critical design goal as they have the potential to jeopardize the electrical performance. We accomplish this by adhering to the ATLAS grounding rules, by avoiding ground loops and isolating the different subdetectors. Noise sources are identified and design rules to protect the SCT against them are described. A rigorous implementation of the design was crucial to achieve the required performance. This paper highlights the location, connection and assembly of the different components that affect the grounding and shielding system: cables, filters, cooling pipes, shielding enclosure, power supplies and others. Special care is taken with the electrical properties of materials and joints. The monitoring of the grounding system during the installation period is also discussed. Finally, after connecting more than four thousand SCT modules to all of their services, electrical, mechanical and thermal within the wider ATLAS experimental environment, dedicated tests show that noise pickup is minimised.
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| 3. |
- Appeltans, W., et al.
(författare)
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The Magnitude of Global Marine Species Diversity
- 2012
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Ingår i: Current Biology. - : Elsevier BV. - 0960-9822 .- 1879-0445. ; 22:23, s. 2189-2202
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Tidskriftsartikel (refereegranskat)abstract
- Background: The question of how many marine species exist is important because it provides a metric for how much we do and do not know about life in the oceans. We have compiled the first register of the marine species of the world and used this baseline to estimate how many more species, partitioned among all major eukaryotic groups, may be discovered. Results: There are similar to 226,000 eukaryotic marine species described. More species were described in the past decade (similar to 20,000) than in any previous one. The number of authors describing new species has been increasing at a faster rate than the number of new species described in the past six decades. We report that there are similar to 170,000 synonyms, that 58,000-72,000 species are collected but not yet described, and that 482,000-741,000 more species have yet to be sampled. Molecular methods may add tens of thousands of cryptic species. Thus, there may be 0.7-1.0 million marine species. Past rates of description of new species indicate there may be 0.5 +/- 0.2 million marine species. On average 37% (median 31%) of species in over 100 recent field studies around the world might be new to science. Conclusions: Currently, between one-third and two-thirds of marine species may be undescribed, and previous estimates of there being well over one million marine species appear highly unlikely. More species than ever before are being described annually by an increasing number of authors. If the current trend continues, most species will be discovered this century.
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| 4. |
- Kirby, Andrew, et al.
(författare)
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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:3, s. 299-303
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Tidskriftsartikel (refereegranskat)abstract
- Although genetic lesions responsible for some mendelian disorders can be rapidly discovered through massively parallel sequencing of whole genomes or exomes, not all diseases readily yield to such efforts. We describe the illustrative case of the simple mendelian disorder medullary cystic kidney disease type 1 (MCKD1), mapped more than a decade ago to a 2-Mb region on chromosome 1. Ultimately, only by cloning, capillary sequencing and de novo assembly did we find that each of six families with MCKD1 harbors an equivalent but apparently independently arising mutation in sequence markedly under-represented in massively parallel sequencing data: the insertion of a single cytosine in one copy (but a different copy in each family) of the repeat unit comprising the extremely long (similar to 1.5-5 kb), GC-rich (>80%) coding variable-number tandem repeat (VNTR) sequence in the MUC1 gene encoding mucin 1. These results provide a cautionary tale about the challenges in identifying the genes responsible for mendelian, let alone more complex, disorders through massively parallel sequencing.
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| 5. |
- Vernet, Nicolas, et al.
(författare)
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Experimental determination of the permeability of engineering textiles : Benchmark II
- 2014
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Ingår i: Composites. Part A, Applied science and manufacturing. - : Elsevier Ltd. - 1359-835X .- 1878-5840. ; 61, s. 172-184
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Tidskriftsartikel (refereegranskat)abstract
- In this second international permeability benchmark, the in-plane permeability values of a carbon fabric were studied by twelve research groups worldwide. One participant also investigated the deformation of the tested carbon fabric. The aim of this work was to obtain comparable results in order to make a step toward standardization of permeability measurements. Unidirectional injections were thus conducted to determine the unsaturated in-plane permeability tensor of the fabric. Procedures used by participants were specified in the guidelines defined for this benchmark. Participants were asked to use the same values for parameters such as fiber volume fraction, injection pressure and fluid viscosity to minimize sources of scatter. The comparison of the results from each participant was encouraging. The scatter between data obtained while respecting the guidelines was below 25%. However, a higher dispersion was observed when some parameters differed from the recommendations of this exercise.
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| 6. |
- Chiavassa, A., et al.
(författare)
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Radiative hydrodynamics simulations of red supergiant stars II. Simulations of convection on Betelgeuse match interferometric observations
- 2010
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 515, s. A12-
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Tidskriftsartikel (refereegranskat)abstract
- Context. The red supergiant (RSG) Betelgeuse is an irregular variable star. Convection may play an important role in understanding this variability. Interferometric observations can be interpreted using sophisticated simulations of stellar convection. Aims. We compare the visibility curves and closure phases obtained from our 3D simulation of RSG convection with CO5BOLD to various interferometric observations of Betelgeuse from the optical to the H band to characterize and measure the convection pattern on this star. Methods. We use a 3D radiative-hydrodynamics (RHD) simulation to compute intensity maps in different filters and thus derive interferometric observables using the post-processing radiative transfer code OPTIM3D. The synthetic visibility curves and closure phases are compared to observations. Results. We provide a robust detection of the granulation pattern on the surface of Betelgeuse in both the optical and the H band based on excellent fits to the observed visibility points and closure phases. We determine that the Betelgeuse surface in the H band is covered by small to medium scale (5-15 mas) convection-related surface structures and a large (approximate to 30 mas) convective cell. In this spectral region, H2O molecules are the main absorbers and contribute to both the small structures and the position of the first null of the visibility curve (i.e., the apparent stellar radius).
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| 7. |
- Leblond, Claire S, et al.
(författare)
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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.
- 2014
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Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 10:9
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Tidskriftsartikel (refereegranskat)abstract
- SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined. Here, we performed a new screen and a meta-analysis of SHANK copy-number and coding-sequence variants in ASD. Copy-number variants were analyzed in 5,657 patients and 19,163 controls, coding-sequence variants were ascertained in 760 to 2,147 patients and 492 to 1,090 controls (depending on the gene), and, individuals carrying de novo or truncating SHANK mutations underwent an extensive clinical investigation. Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. In summary, mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment. Given the rare frequency of SHANK1 and SHANK2 deleterious mutations, the clinical relevance of these genes remains to be ascertained. In contrast, the frequency and the penetrance of SHANK3 mutations in individuals with ASD and intellectual disability-more than 1 in 50-warrant its consideration for mutation screening in clinical practice.
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