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The acceleration of DNA sequencing in samples from patients and population studies has resulted in extensive catalogues of human genetic variation, but the interpretation of rare genetic variants remains problematic. A notable example of this challenge is the existence of disruptive variants in dosage-sensitive disease genes, even in apparently healthy individuals. Here, by manual curation of puta

Denna avhandling undersöker vetenskapens roll i den politiska processens tidiga stadier. Detta görs genom att studera hur "geoengineering" kommer upp på den politiska agendan. Begreppet ”geoengineering” används även på svenska och beskriver en uppsättning idéer om hur man stabiliserar den globala temperaturen genom att ingripa i jordens miljösystem. Begreppet mötte stark skepsis i det vetenskapligThis thesis examines the role of science in the earliest stages of the political process. It does this by studying the emergence of ‘geoengineering’ on the political agenda. The term describes a set of ideas on how to stabilize global temperature by intervening into the Earth’s natural systems, and was subject to a strong taboo in the scientific community until the mid-2000s. Yet within a decade,

BACKGROUND: Long QT syndrome (LQTS) is caused by the abnormal function of ion channels, which may also affect atrial electrophysiology and be associated with the risk of atrial fibrillation (AF). However, large-scale studies of AF risk among patients with LQTS and its relation to LQTS manifestations are lacking. We aimed to assess the risk of AF and its relationship to the LQTS genotype and the lo

Mutation-bearing peptide ligands from mutated nucleophosmin-1 (NPM1) protein have been empirically found to be presented by HLA class I in acute myeloid leukemia (AML). We hypothesized that HLA genotype may impact allogeneic hematopoietic stem cell transplantation (allo-HCT) outcomes in NPM1-mutated AML owing to differences in antigen presentation. We evaluated the effect of the variable of predic

Human-mediated changes in island vegetation are, among others, largely caused by the introduction and establishment of non-native species. However, data on past changes in non-native plant species abundance that predate historical documentation and censuses are scarce. Islands are among the few places where we can track human arrival in natural systems allowing us to reveal changes in vegetation d

Lifestyle factors such as participation in cognitively stimulating activities and physical activity are hypothesized to foster neural connections and enhance resilience, thereby attenuating cognitive loss in the context of Alzheimer's disease (AD) and other neurodegenerative diseases. Nonetheless, the relationship between these factors and important clinical outcomes of cognition and brain atrophy

Reason(s) for writing and research problem(s): This article analyzes the experiences retold by former concentration camp detainees who were placed in concentration camps like civilians at the beginning of the Bosnian war in the 1990s. Aims of the paper (scientific and/or social): The article aims to describe the recounted social interaction rituals after time spent in a concentration camp as well

I det virrvarr av paragrafer, principer och värden rättstillämparen är nödgad att orientera sig i är tolkningsförfarandet av yttersta vikt för att fastställa vad som utgör gällande rätt. I den skatterättsliga avvägningen mellan rättsystemets inneboende värden och principer måste rättstillämparen, med machete i högsta hugg, bereda väg genom den snårskog som utgör den offentliga rätten samtidigt somInterpretation, whether it is the judicial interpretation of the law or the interpretation of the true implication between contracting parties, is without doubt a most delicate matter. Torn between the fundamental values of predictability, uniformity and the principles of law the judiciary must determine the true meaning of a transaction or norm whilst facilitating a judicial precedent. Suppose th

This master’s thesis examines 21 master’s theses written in Library and Information Science in Sweden between the years 2010 and 2013. The master’s theses are written in Lund, Borås and Uppsala and all of them have literature and/or reading as subject matters. The aim of the thesis is to investigate how master’s theses in our time handle the question of reading and literature as a subject matter i

Detta arbete behandlar frågan om vad det inom migrationsrätten gällande beviskravet sannolikt innebär ur ett sannolikhetsteoretiskt perspektiv vid tillämpning framför allt av utlänningslagen (2005:716) 4 kap. 1 §. Utvald del av denna paragraf tolkas och delas upp i delteman. Utifrån dessa delteman undersöks vad som måste uppnå vilken sannolikhet och hur sannolikheten för olika delteman påverkar saThis is a thesis on the issue of what the evidentiary requirement within the field of migration law, probable, implies, from a probabilistic point of view, especially when applying the 1st article of the 4th chapter in the Swedish Aliens Act (2005:716), about refugee status. A selected part of this article is interpreted and divided into sub-themes of proof (these could also be referred to as prop

This thesis set the goal to contribute to the fields of diaspora studies and cultural studies from a media and communication studies angle by addressing the blank spots ‘white minorities’ and book use. White diasporas are nearly invisible within academia and very often ‘under the radar’ in society as well. Books are underresearched within media studies in favour of other media. On the other hand,

The market for Wi-Fi receiver designs for latest Wi-Fi standards, that cover RF bands in the 2.4 GHz, 5 GHz and 6 GHz spectrum, require increasingly stringent power consumption limitations as more of the market is driven towards battery-powered devices. In order to meet those needs, it is crucial to explore different ways of reducing power consumption in various receiver blocks. One such power con

Uppsatsen syftar till att utreda rättsläget i frågan om en allmän reklamationsplikt vid avtalsbrott i situationer som inte omfattas av någon lagreglering. Ett särskilt syfte är att klargöra reklamationsplikten närmare beskaffenhet när det handlar om avtal om komplexa immateriella tjänster, såsom rådgivnings- och undersökningstjänster. En rättsdogmatisk metod tillämpas. Utredningen kommer fram tillThe thesis seeks to investigate whether there is a general duty to give notice in the event of a breach of contract in situations not covered by a statutory regulation. A particular purpose is to clarify the inner nature of the legal institute of notification when it comes to contracts on complex intangible services, such as legal advice and investigation services. A legal dogmatic method is appli

Den 24 februari 2022 invaderade Ryssland Ukraina vilket förändrade världshistorien. Syftet med studien är att genomföra en jämförande analys av hur den svenska och finska försvarsmakten kommunicerar kring kriget i Ukraina och vidare presenterar sin organisation på Instagram sedan kriget i Ukraina. Studien är avsedd att ge en förståelse för hur användningen av text och bild presenterar en militär oOn February 24, 2022, Russia invaded Ukraine, changing world history. The aim of this study is to conduct a comparative analysis of how the Swedish and Finnish armed forces communicate regarding the war in Ukraine and further present their organization on Instagram since the Russian invasion of Ukraine. This study is intended to provide an understanding of how the use of text and image presents a

Introduction: PARP14 is overexpressed and plays an essential role in the survival of many kinds of cancer cells and in inflammatory diseases, and its inhibition could prove to be a future medical treatment. Background: It is still unknown which structures contribute more to PARP14 binding, and because of how conserved the catalytic domain is in the PARP family, the inhibitors need to be selective

The study of relationship between well-being and living space is an actively expanding field across psychology, anthropology, history, archeology, architecture, interior design and philosophy. The human condition in relation to environmental factors has several scientific conclusions in terms of physical effect and mental health – green foliage, sunlight, certain proportions and ergonomic conditio