A high quality benchmark for small variants encompassing 88 to 90% of the reference genome has been developed for seven Genome in a Bottle (GIAB) reference samples. However a reliable benchmark for large indels and structural variants (SVs) is more challenging. In this study, we manually curated 1235 SVs, which can ultimately be used to evaluate SV callers or train machine learning models. We deve

Risto Hilpinen’s name is associated with seminal contributions to many areas of analytic philosophy, including influential work on deontic logic and the theory of artifacts, as well as important early investigations into inductive logic and indefeasibility analyses of knowledge. A somewhat lesser known body of Hilpinen’s work concerns the theory of inquiry, whereby the central questions are how to

The etiology of multiple myeloma (MM) is poorly understood. Summary data from genome-wide association studies (GWASs) of multiple phenotypes can be exploited in a Mendelian randomization (MR) phenome-wide association study (PheWAS) to search for factors influencing MM risk. We performed an MR-PheWAS analyzing 249 phenotypes, proxied by 10 225 genetic variants, and summary genetic data from a GWAS

The identification of important components with the potential for the most disruption is vital in network planning and analysis. Critical infrastructure systems are vulnerable to a variety of failures, whether natural (e.g., space weather, earthquakes) or intentional (e.g., malevolent acts). These systems are increasingly interconnected, which increases the risk of the propagation of disruptions.

Precipitation extremes and their underlying causes are important processes to understand to plan appropriate adaptation measures. This paper presents an analysis of the spatiotemporal variability and trend of precipitation extremes in the important source region of the Yellow River and explores the connection to global teleconnection patterns and the 850-mb vector wind. Six indices for precipitati

In the Swedish Caledonides, the continent-ocean boundary is represented by the basal thrust of the Iapetus-derived Köli Nappe Complex (KNC) which overlies the Seve Nappe Complex (SNC) derived from the outer rifted margin of Baltica and the continent-ocean transition (COT). Current maps and literature subdivide the Seve teconostratigraphy in northern Sweden (Sarek-Padjelanta region) into three mega

Background: When occupational therapists address environmental barriers to occupational engagement, some barriers might not be possible to reduce for single individuals, because decisions have to be taken at community or societal level, for example changes in public transport. Investigating environmental barriers by means of the Swedish Craig Hospital Inventory of Environmental Factors (CHIEF-S) m

In this study, two digital breast tomosynthesis (DBT) systems were evaluated: Siemens Mammomat Inspiration TOMO (Siemens Healthineers, Erlangen, Germany) and GE Senographe Pristina (GE, Buc, France). Along with differences such as angular range and detectors type, the systems use different reconstruction algorithms. One was available for the GE system, based on iterative reconstruction (IR). Two a

Mental ill-health has been termed the pandemic of the 21st century, and a large share of those exposed do not receive treatment. Many people with depression, anxiety and other mental health problems consult complementary or alternative medicine (CAM), and CAM is used in conventional psychiatric care, in Sweden and in other countries. However, the extent to which CAM is used in psychiatric care, an

Long-term right ventricular pacing is associated with left ventricular dysfunction and cardiomyopathy, particularly in pediatric patients and those with congenital heart disease (CHD). Research has shown that pacing-induced cardiomyopathy can be reversed with nonselective or selective His bundle pacing in adults, however, the information available about the use of this type of therapy in pediatric

Introduction: Cognitive function is an important outcome measure in patients with brain tumor, providing information about the patient’s clinical situation, treatment effects and possible progressive disease. The aim of this longitudinal study was to evaluate effects of the currently used radiation and chemotherapy treatment on cognitive function and to investigate associations between cognitive f

Background: Limited scientific evidence for prevention and treatment of diabetic foot ulcers in elderly with comorbidities. Aim: To explore patient-related factors and outcomes in patients ≥75 years with diabetes and a foot ulcer. Method: Sub-analysis of consecutively presenting patients ≥75 years (N = 1008) from a previous study on 2,480 patients with diabetic foot ulcer treated in a multidiscipl

Objectives: Distal cholangiocarcinoma (dCCA) is a malignancy with a dismal prognosis. One of the hallmarks is the presence of a rich desmoplastic stroma believed to contribute to tumor progression and treatment resistance. Secreted protein acidic and rich in cysteine (SPARC) is a matricellular glycoprotein implicated in tumor-stroma interaction with prognostic correlation across several malignanci

BACKGROUND: Oesophageal and gastric cancer are highly lethal malignancies with a 5-year survival rate of 15-29%. More knowledge is needed about the quality of end-of-life care in order to understand the burden of the illness and the ability of the current health care system to deliver timely and appropriate end-of-life care. The aim of this study was to describe the impact of initial treatment str

Retrofitting historical buildings was neglected for many years, as common systems could not be used. Now that technology has evolved, retrofitting buildings worth preserving is getting more common and can play a significant role in reaching climate targets by reducing the energy use. In order to produce equally much or more energy as the respective buildings use renewably and on site, the exploita

GaSb-based nanowires in a gate-all-around geometry are good candidates for binary p-type transistors, however they require the introduction of compressive strain to enhance the transport properties. Here, we for the first time demonstrate epitaxial GaSb-GaAsxSb1−x core-shell nanowires with a compressively strained core. Both axial and hydrostatic strain in GaSb core have been measured by X-ray dif

A study on the fracture characteristics of unmodified and chemically modified Scots pine (Pinus sylvestris) is presented. The investigated material consisted of small-dimension sawn timber originating from young logs (thinnings), aged 30–40 years. The modified samples were acetylated with acetic anhydride in an industrial scale process without the use of any catalyst, reaching an acetyl content of