The impact of somatic structural variants (SVs) on gene expression in cancer is largely unknown. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole-genome sequencing data and RNA sequencing from a common set of 1220 cancer cases, we report hundreds of genes for which the presence within 100 kb of an SV breakpoint associates with altered e

Large-scale gene sequencing studies for complex traits have the potential to identify causal genes with therapeutic implications. We performed gene-based association testing of blood lipid levels with rare (minor allele frequency < 1%) predicted damaging coding variation by using sequence data from >170,000 individuals from multiple ancestries: 97,493 European, 30,025 South Asian, 16,507 African,

Background: Birds have extremely elevated metabolic rates during migratory endurance flight and consequently can become physiologically exhausted. One feature of exhaustion is oxidative damage, which occurs when the antioxidant defense system is overwhelmed by the production of damaging reactive oxygen species (ROS). Migrating birds have been shown to decrease the amount of oxidative lipid damage

The transport sector accounted for 37% of global CO2 emissions from end-use sectors in 2021. For the transport- and road freight sector to contribute to emissions reduction targets while still meeting the foreseen increase in transport demands, decarbonization will play a key role. This study focus on battery-electric heavy-duty trucks and the objective is to provide an overview of policy instrume

Static program analysis plays a crucial role in ensuring the quality and security of software applications by detecting and fixing bugs, and potential security vulnerabilities in the code. The use of declarative paradigms in dataflow analysis as part of static program analysis has become increasingly popular in recent years. This is due to its enhanced expressivity and modularity, allowing for a h

Reducing greenhouse gas emissions from agriculture is crucial to reach global and regional climate targets. However, the efficiency of unilateral climate policies aimed at taxing emissions might be hampered by carbon leakage. One way to eliminate leakage is to implement a global carbon tax. In this article, we study the effects of a carbon tax in agriculture on GHG emissions by simulating five polReducing greenhouse gas emissions from agriculture is crucial to reach global and regional climate targets. However, the efficiency of unilateral climate policies aimed at taxing emissions might be hampered by carbon leakage. One way to eliminate leakage is to implement a global carbon tax. In this article, we study the effects of a carbon tax in agriculture on GHG emissions by simulating five pol

We report the discovery of a super-Earth and a sub-Neptune transiting the star HD 15337 (TOI-402, TIC 120896927), a bright (V = 9) K1 dwarf observed by the Transiting Exoplanet Survey Satellite (TESS) in Sectors 3 and 4. We combine the TESS photometry with archival High Accuracy Radial velocity Planet Searcher spectra to confirm the planetary nature of the transit signals and derive the masses of

As versatile compounds forming host-guest complexes with a wide variety of hydrophobic molecules, cyclodextrins are widespread candidates to confer functionalities to surfaces, particularly for drug delivery applications in the field of biomaterials, and for analytic or preparative purposes in separative sciences. We report here on Layer-by-Layer coatings used to decorate surfaces with β-cyclodext

Focusing on the photoinduced electron transfer properties of the D-D-A molecule ((TPA-TT)-BODIPY-C60) in an external electric field (Fext), the excited-state properties in which the double-donor molecule is excited to form three charge-separated states were simulated. The charge-Transfer processes of these three charge-separated states were investigated by considering the two donors as a whole ((T

BACKGROUND: Hemophilia A and B are caused by variants in the factor (F) VIII or FIX gene. Selective reporting may influence the distribution of variants reported in genetic databases.OBJECTIVES: To compare the spectrum of F8 and F9 variants in an international population-based pediatric cohort (PedNet Registry) with the spectrum found in the European Association for Haemophilia and Allied Disord

Antigens of the remaining 35 blood group systems are carried by glycoproteins. This chapter addresses only those antigens that elicit formation of clinically significant antibodies while briefly commenting on the other blood group systems. The most commonly encountered antibodies are directed against the M, N, S, and s antigens. The Lutheran blood group system contains multiple antigens; however,

Teacher shortage and turnover is a growing problem in Sweden, yet little is known about the organisational factors associated with these problems. The current study explores teachers’ experiences of organisational processes and aims to identify relevant job demands and resources linked to professional sustainability for teachers. In this study, semi-structured focus group-interviews were conducted

RNA based processes are in the limelight due to the current technological advances from the fields of high throughput sequencing, structural probing and super-high resolution imaging. RNA biology is implicated in wide range of processes including embryonal development, maintenance of tissue homeostasis or tumor development and progression. We now gain insights at the unprecedented level on how RNA

Background Although physiology-based assessment of coronary artery stenosis using instantaneous wave-free ratio (iFR) and fractional flow reserve (FFR) are established methods of guiding coronary revascularization, its clinical outcome in long-term deferral needs further evaluation, especially with acute coronary syndrome as a clinical presentation. The aim was to evaluate the long-term clinical o

Context. Multiplanet systems are excellent laboratories to test planet formation models as all planets are formed under the same initial conditions. In this context, systems transiting bright stars can play a key role, since planetary masses, radii, and bulk densities can be measured. Aims. GJ 9827 (K2-135) has recently been found to host a tightly packed system consisting of three transiting smal

This computational study investigates the energy minimum, that is, ground state, of suspensions of monodisperse (single-component) charged linear rods at various densities and screening lengths. We find that closed-packed unidirectional configurations have the lowest energies for all studied cases. We further specify the lattice parameters for these crystalline structures. In addition, we identify

The study aims to develop an artificial neural networks (ANN) model to estimate the acoustic performance for airborne and impact sound insulation curves of different lightweight wooden floors. The prediction model is developed using 252 standardized laboratory measurement curves in one-third octave bands (50 − 5000 Hz). Each floor structure has been divided into three parts in the database: upper,

Objectives: Invasive treatment of infrainguinal intermittent claudication is controversial, and long-term outcomes are scarce. The study aim was to evaluate 8 years results regarding new vascular interventions on index and contralateral limb, hospitalization, mortality, and amputation in 775 patients revascularized for infrainguinal intermittent claudication in 2009. Methods: Data on new vascular