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Next-generation sequencing (NGS) will soon be used for clinically heterogeneous, inherited disorders and the increasing number of disease-causing genes reported. Diagnostic laboratories therefore need to decide which NGS methods they are going to invest in and how to implement them. We discuss here the challenges and opportunities of using targeted resequencing (TRS) panels for diagnosing monogene
Background: The efficacy of cervical cancer screening programs is dependent on the participation rate. To increase participation among women not attending cervical cancer screening, self-collected samples for detection of high-risk human papillomavirus (hr-HPV) may be an option. The aims of this study were: to investigate the response rate to sending a self-collected vaginal sample for hr-HPV mRNA
Detailed diagenetic studies of the late Cambrian Alum Shale in southern Sweden were undertaken across an interval that includes the peak Steptoean Positive Carbon Isotope Excursion (SPICE) event to evaluate the pyrite mineralization history in the formation. Samples were collected from the Andrarum-3 core (Scania, Sweden); here the Alum was deposited in the distal, siliciclastic mudstone-rich end
The polarization observables T,E,P,H, and G in photoproduction of η mesons off protons are measured for photon energies from threshold to W=2400 MeV (T), 2280 MeV (E), 1620 MeV (P,H), or 1820 MeV (G), covering nearly the full solid angle. The data are compared to predictions from the SAID, MAID, JüBo, and BnGa partial-wave analyses. A refit within the BnGa approach including further data yields pr
In both Stockholm and Tokyo, small dwell time delays of at most 5 min make up around 90% of the total delays for commuter trains. To understand these disturbances, we use high resolution data on dwell times and passenger counts from both countries over the last several years. We find that trains in Tokyo are much more congested than in Stockholm, and that the exchange of passengers is modest at mo
Interactions between cortical areas were studied during the search for verbal associations and reading of words. The functional anatomy and the sequence of involvement of cortical areas during the solution of these tasks have been described previously, in studies using positron emission tomography and multichannel recordings of evoked potentials combined with identification of the locations of dip
Cortical connectivity was studied in tasks of generating the use of words in comparison with reading aloud the same words. These tasks were used earlier in PET and high-density ERP recording studies, which described both the functional anatomy and time course of involvement of cortical areas in word processing. We developed a new method for studying the synchrony of EEG spectral components within
Structured laser illumination planar imaging (SLIPI)-based techniques have been employed during the past decade for addressing multiple light scattering issues in spray imaging. In this article, SLIPI droplet sizing based on the intensity ratio of laser-induced fluorescence (LIF) over Mie scattering (SLIPI-LIF/Mie) and SLIPI-Scan for extinction-coefficient (μe) mapping are applied simultaneously.
The Damages Directive has been celebrated as a milestone for the private enforcement of EU competition law. The Directive harmonises national procedural laws and aims to facilitate full compensation for damages occurred as a result of competition law violations. At the same time, US and EU businesses more frequently use contractual clauses that might present obstacles in obtaining compensation. Re
Direct measurements are presented of the Schottky barrier (SB) heights of carbon nanotube devices contacted with Pd electrodes. The SB barrier heights were determined from the activation energy of the temperature-dependent thermionic emission current in the off-state of the devices. The barrier heights generally decrease with increasing diameter of the nanotubes and they are in agreement with the
Autonomous vehicle functions in safety-critical situations show promise in reducing the risk and saving lives in accidents compared to existing safety systems. Consequently, it is from many perspectives advantageous to be able to quantify the potential benefits of new autonomous systems for vehicle maneuvers at-the-limit of tire friction. Here, to estimate the potential in terms of saved lives and
A first performance test of the Coulomb excitation multipolarimetry (Coulex-multipolarimetry) method is presented. It is based on a 85Br πp3/2 → πp1/2 spin-flip experiment performed as part of the PreSPEC-AGATA campaign at the GSI Helmholtzzentrum für Schwerionenforschung (GSI). Via determination of background levels around the expected 85Br excitations as well as measured 197Au excitations, an up
In this study, Spatial Multi-Criteria Evaluation and the least cost path analysis were applied to find the optimal by-pass road alignment in the Tlokweng Planning Area in Botswana. One-At-a-Time sensitivity analysis and the statistical test for zero proportion were used to investigate the robustness of the entire model. Four alternative by-pass roads were produced stressing economic, environmental
Seawater desalination constitutes an important source for water supply to the population bordering the Arabian Gulf, the Mediterranean Sea, and the Red Sea. Desalination has advantages and disadvantages which may depend on the region, location, technology, impact and amount of fresh water production. Desalination may also have other impacts. For example, chemicals added in the pre-treatment stages
Background: Optimal alignment is of utmost importance when treating pediatric patients with craniospinal irradiation (CSI), especially with regards to field junctions and multiple isocenters and techniques applying high dose gradients. Here, we investigated the setup errors and uncertainties for pediatric CSI using different setup verification protocols. Methods: A total of 38 pediatric patients t
Modeling criteria interaction in decision-making problems is complex and often neglected. In complicated problems, like contaminated site remediation projects, independency of involved criteria is not a realistic assumption. INfluence based deciSIon guiDE (INSIDE) is a methodology that enables sustainable decision making and management in contaminated site remediation practice. Unlike most previou
We consider thermal fluid structure interaction with a partitioned approach, where typically, a finite volume and a finite element code would be coupled. As a model problem, we consider two coupled Poisson problems with heat conductivities $$\lambda _1$$, $$\lambda _2$$ in one dimension on intervals of length $$l:1$$ and $$l:2$$. Hereby, we consider linear discretizations on arbitrary meshes, such
