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This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive
We present systematic and large-scale calculations for the fine-structure energy splitting and transition rate between the 3d(9) D-2(3/2,5/2) levels of Co-like ions with 28 <= Z <= 100. Two different fully relativistic approaches are used, based on the multiconfiguration Dirac-Hartree-Fock (MCDHF) theory and the relativistic many-body-perturbation theory (RMBPT). Especially the former gives result
In a recent article Bai (2013a) proposes a new factor analytical method (FAM) for the estimation of fixed-effects dynamic panel data models, which has the unique and very useful property that it is asymptotically bias free. In this paper we provide Monte Carlo evidence of the good small-sample performance of FAM, that complement Bai's theoretical study.
This study evaluated a technique to allow the long-term monitoring of individual fishes of known sex in the wild using sex confirmation in close proximity to the reproductive period combined with individual tagging. Hundreds of partially migratory roach Rutilus rutilus were tagged with passive integrated transponders (PIT) following sex determination in spring and various performance measures were
How do we perceive object motion during self-motion using visual information alone? Previous studies have reported that the visual system can use optic flow to identify and globally subtract the retinal motion component resulting from self-motion to recover scene-relative object motion, a process called flow parsing. In this article, we developed a retinal motion nulling method to directly measure
Direct searches for lepton flavour violation in decays of the Higgs and Z bosons with the ATLAS detector at the LHC are presented. The following three decays are considered: H→ eτ, H→ μτ, and Z→ μτ. The searches are based on the data sample of proton–proton collisions collected by the ATLAS detector corresponding to an integrated luminosity of 20.3 fb - 1 at a centre-of-mass energy of s=8 TeV. No
Colonoscopy plays a key role in the work-up of digestive diseases and constitutes the cornerstone in colorectal cancer diagnosis and prevention. Data suggest that the quality of colonoscopy varies widely between different endoscopists. This article summarizes current evidence and expert consensus on quality indicators, along with the evidence supporting their use in benchmarking, quality reporting
Meteorite impacts, one of the most ubiquitous processes in the solar system, have the ability to destroy as well as create habitats for life. The impact process can increase the translucency and porosity of the target substrate, as well as mobilize biologically relevant elements within the substrate. For endolithic organisms, this process has important implications, especially in extreme environme
An implantable sensor capable of long-term monitoring of tissue glucose concentrations by wireless telemetry has been developed for eventual application in people with diabetes. The sensor telemetry system functioned continuously while implanted in subcutaneous tissues of two pigs for a total of 222 and 520 days, respectively, with each animal in both nondiabetic and diabetic states. The sensor de
On Earth, the deep subsurface biosphere of both the oceanic and the continental crust is well known for surviving harsh conditions and environments characterized by high temperatures, high pressures, extreme pHs, and the absence of sunlight. The microorganisms of the terrestrial deep biosphere have an excellent capacity for adapting to changing geochemistry, as the alteration of the crust proceeds
Correct phenotypic interpretation of variants of unknown significance for cancer-associated genes is a diagnostic challenge as genetic screenings gain in popularity in the next-generation sequencing era. The Critical Assessment of Genome Interpretation (CAGI) experiment aims to test and define the state of the art of genotype-phenotype interpretation. Here, we present the assessment of the CAGI p1
Objective: Insulin release from pancreatic β-cells is controlled by plasma glucose levels via mitochondrial fuel metabolism. Therefore, insulin secretion is critically dependent on mitochondrial DNA (mtDNA) and the genes it encodes. Mitochondrial transcription factor B2 (TFB2M) controls transcription of mitochondrial-encoded genes. However, its precise role in mitochondrial metabolism in pancreati
Different approaches to anion exchange membranes (AEMs) are currently intensively investigated with the aim to develop materials for application in electrochemical energy devices such as alkaline fuel cells and electrolysers.1 One of the major challenges is to identify feasible synthetic strategies to AEM materials with sufficient long-term chemical and thermal stability. Studies of different smal
In Torfs et al. (2017) a new unified framework to model settling tanks in water resource recovery facilities was proposed providing a set of partial differential equations (PDEs) modelling different settling unit processes in wastewater treatment such as primary and secondary settling tanks (PSTs and SSTs). The extension to a multi-class framework to deal with the distributed properties of the set
BACKGROUND AND OBJECTIVES: To study selective regional binding for tau pathology in vivo, using PET with [(11) C]PBB3 in PSP patients, and other conditions not typically associated with tauopathy.METHODS: Dynamic PET scans were obtained for 70 minutes after the bolus injection of [(11) C]PBB3 in 5 PSP subjects, 1 subject with DCTN1 mutation and PSP phenotype, 3 asymptomatic SNCA duplication carrie
The performance of the jet trigger for the ATLAS detector at the LHC during the 2011 data taking period is described. During 2011 the LHC provided proton–proton collisions with a centre-of-mass energy of 7 TeV and heavy ion collisions with a 2.76 TeV per nucleon–nucleon collision energy. The ATLAS trigger is a three level system designed to reduce the rate of events from the 40 MHz nominal maximum
