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- Khatri, B., et al.
(författare)
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Genome-wide association study identifies Sjogren's risk loci with functional implications in immune and glandular cells
- 2022
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Sjogren's disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjogren's cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands. The genetic architecture underlying Sjogren's syndrome is not fully understood. Here, the authors perform a genome-wide association study to identify 10 new genetic risk regions, implicating genes involved in immune and salivary gland function.
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| 2. |
- Porro, M., et al.
(författare)
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The MiniSDD-Based 1-Mpixel Camera of the DSSC Project for the European XFEL
- 2021
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Ingår i: IEEE Transactions on Nuclear Science. - : Institute of Electrical and Electronics Engineers Inc.. - 0018-9499 .- 1558-1578. ; 68:6, s. 1334-1350
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Tidskriftsartikel (refereegranskat)abstract
- The first DSSC 1-Mpixel camera became available at the European XFEL (EuXFEL) in the Hamburg area in February 2019. It was successfully tested, installed, and commissioned at the Spectroscopy and Coherent Scattering Instrument. DSSC is a high-speed, large-area, 2-D imaging detector system optimized for photon science applications in the energy range between 0.25 and 6 keV. The camera is based on direct conversion Si sensors and is composed of 1024 × 1024 pixels of hexagonal shape with a side length of 136∼μm. The 256 application-specific integrated circuits (ASICs) provide full parallel readout, comprising analog filtering, digitization, and in-pixel data storage. In order to cope with the demanding X-ray pulse time structure of the EuXFEL, the DSSC provides a peak frame rate of 4.5 MHz. The first Mpixel camera is equipped with miniaturized silicon drift detector (MiniSDD) pixel arrays. The intrinsic response of the pixels and the linear readout limit the dynamic range but allow one to achieve noise values of about 60 electrons r.m.s. at the highest frame rate. The challenge of providing high-dynamic range (104 photons/pixel/pulse) and single-photon detection simultaneously requires a nonlinear system front end, which will be obtained with the DEPFET active pixel technology foreseen for the advanced version of the camera. This technology will provide lower noise and a nonlinear response at the sensor level. This article describes the architecture of the whole detector system together with the main experimental results achieved up to now. © 1963-2012 IEEE.
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| 7. |
- Zhou Hagström, Nanna, 1993-, et al.
(författare)
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Megahertz-rate Ultrafast X-ray Scattering and Holographic Imaging at the European XFEL
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- The advent of X-ray free-electron lasers (XFELs) has revolutionized fundamental science, from atomic to condensed matter physics, from chemistry to biology, giving researchers access to X-rays with unprecedented brightness, coherence, and pulse duration. All XFEL facilities built until recently provided X-ray pulses at a relatively low repetition rate, with limited data statistics. Here, we present the results from the first megahertz repetition rate X-ray scattering experiments at the Spectroscopy and Coherent Scattering (SCS) instrument of the European XFEL. We illustrate the experimental capabilities that the SCS instrument offers, resulting from the operation at MHz repetition rates and the availability of the novel DSSC 2D imaging detector. Time-resolved magnetic X-ray scattering and holographic imaging experiments in solid state samples were chosen as representative examples, providing an ideal test-bed for operation at megahertz rates. Nevertheless, our results are relevant and applicable to any other non-destructive XFEL experiments in the soft X-ray range.
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| 8. |
- Zhou Hagström, Nanna, 1993-, et al.
(författare)
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Megahertz-rate ultrafast X-ray scattering and holographic imaging at the European XFEL
- 2022
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Ingår i: Journal of Synchrotron Radiation. - : International Union of Crystallography (IUCr). - 0909-0495 .- 1600-5775. ; 29, s. 1454-1464
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Tidskriftsartikel (refereegranskat)abstract
- The advent of X-ray free-electron lasers (XFELs) has revolutionized fundamental science, from atomic to condensed matter physics, from chemistry to biology, giving researchers access to X-rays with unprecedented brightness, coherence and pulse duration. All XFEL facilities built until recently provided X-ray pulses at a relatively low repetition rate, with limited data statistics. Here, results from the first megahertz-repetition-rate X-ray scattering experiments at the Spectroscopy and Coherent Scattering (SCS) instrument of the European XFEL are presented. The experimental capabilities that the SCS instrument offers, resulting from the operation at megahertz repetition rates and the availability of the novel DSSC 2D imaging detector, are illustrated. Time-resolved magnetic X-ray scattering and holographic imaging experiments in solid state samples were chosen as representative, providing an ideal test-bed for operation at megahertz rates. Our results are relevant and applicable to any other non-destructive XFEL experiments in the soft X-ray range.
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| 9. |
- Engelke, M., et al.
(författare)
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Near-surface microstructure of Ni-23 at. % Pt : Grazing incidence diffraction and first-principles calculations
- 2010
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Ingår i: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 81:5, s. 054205-
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Tidskriftsartikel (refereegranskat)abstract
- Diffuse x-ray scattering under grazing incidence was measured of a Ni-23.2 at. % Pt(110) surface at 923 K. The modulation of in-plane and out-of-plane scattering is characterized by the maxima in short-range order scattering located at positions of the X type (as for the bulk microstructure). The Warren-Cowley short-range order parameters from diffuse scattering are in good agreement with theoretical simulations based on bulk effective pair interaction parameters from first-principles theory. The nearest-neighbor interaction parameter is dominant also when determined from short-range order scattering. Its value is larger than for the bulk microstructure of Pt-rich alloys, what might reflect the difference in composition and is not compellingly due to the near-surface microstructure. Allowing for the presence of a tetragonal site occupation, indications for a segregation profile are weak in diffuse scattering and hardly resolvable for the Warren-Cowley short-range order parameters. This is consistent with the findings for layer-resolved short-range order parameters from theory. Theoretical simulations also demonstrated that the strong Ni enrichment of the surface layer has the same origin as the segregation reversal for the (110) surface in the case of Ni-50 at. % Pt.
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| 10. |
- Lukasczyk, J., et al.
(författare)
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Report of the TopoInVis TTK Hackathon : Experiences, Lessons Learned, and Perspectives
- 2021
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Ingår i: Mathematics and Visualization. - Cham : Springer Nature. ; , s. 359-373, s. 359-373
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Konferensbidrag (refereegranskat)abstract
- This paper documents the organization, the execution, and the results of the Topology ToolKit (TTK) hackathon that took place at the TopoInVis 2019 conference. The primary goal of the hackathon was to promote TTK in our research community as a unified software development platform for topology-based data analysis algorithms. To this end, participants were first introduced to the structure and capabilities of TTK, and then worked on their own TTK-related projects while being mentored by senior TTK developers. Notable outcomes of the hackathon were first steps towards Python and Docker packages, further integration of TTK in Inviwo, the extension of TTK with new algorithms, and the discovery of current limitations of TTK as well as future development directions.
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