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Whole-genome sequencing methods in familial cancer are useful to unravel rare clinically important cancer predisposing variants. Here, we present improvements in our pedigree-based familial cancer variant prioritization pipeline referred as FCVPPv2, including 12 tools for evaluating deleteriousness and 5 intolerance scores for missense variants. This pipeline is also capable of assessing non-codin
Familial risk of ovarian cancer is well-established but whether ovarian cancer clusters with other cancers and the clusters differ by histology remains uncertain. Using data from the Swedish Family-Cancer Database, we explored familial associations of ovarian cancer with other cancers with a novel approach; relative risk for (histology-specific) ovarian cancer was estimated in families with patien
We report on the measurement of the inclusive J/ψ polarization parameters in pp collisions at a center of mass energy s√=8 TeV with the ALICE detector at the LHC. The analysis is based on a data sample corresponding to an integrated luminosity of 1.23 pb−1. J/ψ resonances are reconstructed in their di-muon decay channel in the rapidity interval 2.5
In this paper, a proof of time-dependent behavior of heat flux into a cutting tool is built. Its implementation calls for a new method for estimating heat flux, which was developed using an inverse problem technique. A special experimental setup was designed and manufactured to implement the method. A series of dry machining experiments were conducted with high speed steel and cemented carbide too
We critically discuss various experimental methods to determine Curie temperature TC of (Ga,Mn)As thin layers or other conducting magnetic materials by means of electric charge transport measurements. They all base on the influence of sample magnetization on the magnetoresistivity tensor ρ̂ and are an alternative to the method based upon an analysis of the temperature derivative of the sample resi
Propanal is a critical stable intermediate derived from the oxidation of 1-propanol, a promising alcohol fuel additive. To deepen the knowledge and accurately describe propanal combustion characteristics, new burning velocity measurements at different temperatures were carried out and a new detailed kinetic mechanism for propanal was proposed. Experiments were performed using the heat flux method
This study compares the thermo-fluidic characteristics of sandwich panels with the X-lattice and the Pyramidal lattice at a given porosity and surface area density. The numerical model is validated against available experimental data at first. At a given Reynolds number in the range of 3100–5700, numerical results reveal that the X-lattice sandwich panel provides a 47–60% higher average overall Nu
Code stability is a matter of concern for three-dimensional (3D) fuel cell models operating both at high current density and at high cell voltage. An idealized mathematical model of a fuel cell should converge for all potentiostatic or galvanostatic boundary conditions ranging from open circuit to closed circuit. Many fail to do so, due to (i) fuel or oxygen starvation causing divergence as local
A design of experiments analysis was performed to investigate the effects of pilot quantity, combustion phasing and exhaust gas recirculation on performance and emissions in a gasoline partially premixed combustion to find out the optimal combination of the all varied parameters. The experimental activities were performed on a light-duty Volvo Euro 6 diesel engine. The test was performed under ste
Purpose: Due to the urgency and the magnitude of the environmental problems caused by food supply chains, it is important that the recommendations for packaging improvements given in life cycle assessment (LCA) studies of food rest on a balanced consideration of all relevant environmental impacts of packaging. The purpose of this article is to analyse the extent to which foodLCAs include the indir
Theory and evidence suggest that some selective pressures are more common on islands than in adjacent mainland habitats, leading evolution to follow predictable trends. The existence of predictable evolutionary trends has nonetheless been difficult to demonstrate, mainly because of the challenge of separating in situ evolution from sorting processes derived from colonization events. Here we use br
Background: This inter-comparison exercise was performed to demonstrate the variability of quantitative SPECT/CT imaging for lutetium-177 (177Lu) in current clinical practice. Our aim was to assess the feasibility of using international inter-comparison exercises as a means to ensure consistency between clinical sites whilst enabling the sites to use their own choice of quantitative imaging protoc
Objectives: To investigate associations between economic stress in childhood and suicide thoughts and attempts. Study design: The 2012 public health survey in Scania, Sweden, is a cross-sectional postal questionnaire study including 28,029 participants, aged 18–80 years. Methods: Associations were analyzed in logistic regressions. Results: A 12.1% prevalence of men and 15.5% of women had ever expe
We provide new evidence on some of the mechanisms reflected in the intergenerational transmission of human capital. Applying both an adoption and a twin design to rich data from the Swedish military enlistment, we show that greater parental education increases sons’ cognitive and non-cognitive skills, as well as their health. The estimates are in many cases similar across research designs and sugg
This paper presents a novel approach for a complex evaluation of the quality of drilled holes in fiber-reinforced composite materials. The proposed methodology is based on non-destructive quantification of visible defects based on the numerical analysis of drilled hole images. Automatic contour definition and profile formation for the uncut fibers and delamination were implemented via modularized
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