Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Abstract: Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient with a mosaic de novo, pathogenic allele in CYBB. The mutation is present in ~70% of phagocytes and sufficient to result in defective bacterial handling but not life-threatening infections. Finally, we show that VEO-IBD patients have, on average, higher IBD polygenic risk scores than population controls (99 patients and 18,780 controls; P < 4 × 10−10), and replicate this finding in an independent cohort of VEO-IBD cases and controls (117 patients and 2,603 controls; P < 5 × 10−10). This discovery indicates that a polygenic component operates in VEO-IBD pathogenesis

Experimental and numerical studies of structure of cluster targets for femtosecond laser pulses

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Characterization of argon cluster jets for the study of laser-cluster interaction

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Characterization of argon cluster jets for laser interaction studies

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Spatial distribution of cluster size and density in supersonic jets as targets for intense laser pulses

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Measurement of total cross sections for photoproduction on nuclei in the -resonance region

Copy held by FIZ Karlsruhe; available from UB/TIB Hannover / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEDEGerman

Modeling cluster jets as targets for high-power ultrashort laser pulses

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Influence of ultrashort laser pulse duration on the X-ray emission spectrum of plasma produced in cluster target

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Optimization and Estimated Pareto Front of the Maximum Lift/Drag Ratio and Roll Stability Coefficient

Given the significant increase of on-line services that require personal information from users, the risk that such information is misused has become an important concern. In such a context, information accountability is desirable since it allows users (and society in general) to decide, by means of audits, whether information is used appropriately. To ensure information accountability, information flow should be made transparent. It has been argued that data provenance can be used as the mechanism to underpin such a transparency. Under these conditions, an audit's quality depends on the quality of the captured provenance information. Thereby, the integrity of provenance information emerges as a decisive issue in the quality of a provenance-based audit. The aim of this paper is to secure provenance-based audits by the inclusion of cryptographic elements in the communication between the involved entities as well as in the provenance representation. This paper also presents a formalisation and an automatic verification of a set of security properties that increase the level of trust in provenance-based audit results