Computational tools are widely used for interpreting variants detected in sequencing projects. The choice of these tools is critical for reliable variant impact interpretation for precision medicine and should be based on systematic performance assessment. The performance of the methods varies widely in different performance assessments, for example due to the contents and sizes of test datasets.

Background Intracellular delivery of antimicrobial agents by nanoparticles, such as mesoporous silica particles (MSPs), offers an interesting strategy to treat intracellular infections. In tuberculosis (TB), Mycobacterium tuberculosis avoids components of the immune system by residing primarily inside alveolar macrophages, which are the desired target for TB therapy. Methods and findings We have p

Background: Breathlessness, the subjective sensation of breathing discomfort, is common and appears in the daily life of people with cardiorespiratory diseases. Physicians often rely on patient's history based on symptom recall. The relation between recalled and experienced breathlessness is still poorly understood. This paper presents the protocol for a study primarily aimed at evaluating the rel

Background: The knowledge base on health-related quality of life (HRQoL) in adults with cerebral palsy (CP) is small and inconsistent. Objective: The aim was to study HRQoL in adults with CP stratified on demographic and disability-specific factors using both experience- and hypothetical-based value-sets. Methods: Cross-sectional study based on registry data from the Swedish follow-up program CPUP

Mutational input is the ultimate source of genetic variation, but mutations are not thought to affect the direction of adaptive evolution. Recently, critics of standard evolutionary theory have questioned the random and non-directional nature of mutations, claiming that the mutational process can be adaptive in its own right. We discuss here mutation bias in adaptive evolution. We find little supp

Offspring of women with gestational diabetes mellitus (GDM) are at increased risk of developing metabolic disease, potentially mediated by epigenetic mechanisms. We recruited 608 GDM and 626 control offspring from the Danish National Birth Cohort, aged between 9 and 16 years. DNA methylation profiles were measured in peripheral blood of 93 GDM offspring and 95 controls using the Illumina HumanMeth

This article reports findings from a study of weaning from a perspective informed by practice theory. The overall aim is to examine how parents integrate convenience baby food into their everyday feeding practices. The focus is the embedding of convenience baby foods in the routines and rhythms of everyday life and the “do-ability” of different practices. The study is based on fieldwork with ninet

The ability to handle sensory conflicts and use the most appropriate sensory information is vital for successful recovery of human postural control after injury. The objective was to determine if virtual reality (VR) could provide a vehicle for sensory training, and determine the temporal and spatial nature of such adaptive changes. Twenty healthy subjects participated in the study (10 females). T

In this chapter, we discuss the need for deeper knowledge about the relation between people’s daily activities and their electricity use and how to increase our knowledge through time use surveys and the visualization of aggregate activity patterns. To understand people’s energy consumption and how to improve energy efficiency or reduce demand during certain peak hours requires an understanding of

Current climate change is opening up the Arctic region, not only in physical terms, as ice melts and former solid frozen ocean becomes penetrable for transport and resource extraction, but also in terms of opening up to global concerns as a contested political space: geopolitical issues that used to define the Arctic has become more complicated. It is challenging for the current cooperation in the

The interest in self-consumption of PV electricity from grid-connected residential systems is increasing among PV system owners and in the scientific community. Self-consumption can be defined as the share of the total PV production directly consumed by the PV system owner. With decreased subsidies for PV electricity in several countries, increased self-consumption could raise the profit of PV sys

We examine how building and appliance technologies relate to their use by occupants through practices at home and at work. The aim is to analyse how practices are influenced by buildings and other technologies and by social requirements and to add to ongoing research on how to contribute to a transition to more sustainable everyday practices. Interview, quantitative and observational material are

Industrial energy efficiency is one of the most important means of reducing the threat of increased global warming. Research however states that despite the existence of numerous technical energy efficiency measures, its deployment is hindered by the existence of various barriers to energy efficiency. The complexity of increasing energy efficiency in manufacturing industry calls for an interdiscip

This article examines the environmental management of Stockholm's large brownfield development Hammarby Sjöstad through the concept of negotiating sustainabilities. An Environmental Programme injected exceptional aims into an ongoing, ordinary planning process involving developers, consultants, contractors and other stakeholders. In parallel, a project team was established and given the task of re

Environmental problems in the energy system often originate from everyday activities and choices. Everyday activities in the home are part of the private sphere that can be contested in relation to energy policies. This article discusses the public-private divide in energy policies and how Swedish municipal energy consultants understand the divide. By analyzing the actions of energy consultants an

Objective: Foster family care is associated with adverse short- and long-term consequences for the child. A systematic review was conducted on interventions for foster children and foster careers. Method: A comprehensive search process was used to find eligible interventions evaluated in randomized controlled trials or quasi-experimental studies. The quality of studies was assessed with GRADE, and

Studies investigating tool use in animals that are not known tool users in the wild are important in helping to understand how and under what circumstances this ability might arise. Tool use appears to be uncommon in great tits (Parus major), with only a single documented observation in which a wild great tit used conifer needles to extract larvae from crevices in trees. In a laboratory-based expe

Carefully converged calculations are performed for the band gap of ZnO within many-body perturbation theory (G0W0 approximation). The results obtained using four different well-established plasmon-pole models are compared with those of explicit calculations without such models (the contour-deformation approach). This comparison shows that, surprisingly, plasmon-pole models depending on the f-sum r