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Genome sequencing can identify individuals in the general population who harbor rare coding variants in genes for Mendelian disorders1-7 and who may consequently have increased disease risk. Previous studies of rare variants in phenotypically extreme individuals display ascertainment bias and may demonstrate inflated effect-size estimates8-12. We sequenced seven genes for maturity-onset diabetes o

Popular Abstract in English In an organism the DNA contains the entire biological information that is needed to be able to exist and function. Those segments, also known as DNA sequences are a genetic code, which is further packaged into units called genes. The entity of all genes is called genome. Today we know, that only a small proportion of genes encode for proteins, which are responsible for More than 90% of DNA does not code for proteins and for a long time these sequences were referred to as “junk DNA” due to their unknown purpose. With the advent of new technologies it is now known, that the non-coding part of the genome is of great importance for regulating gene expression and is therefore indispensable. Transposable elements comprise about 50% of the genome and co-exist as symbio

To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexican and Mexican American ancestry. We observed a significant excess in the directional consistency of T2D risk alleles across ancestry groups, e

This article investigates the relation between conceptions of status and processes of militarization of peasants in the medieval and early-modern society. In an initial overview we see how many revolts in western Europe in late middle ages were connected to an increased military participation of peasant groups. After 1500 similar processes can be found in the east european frontier regions. Econom

In photonuclear experiments precise location of the photon beam relative to the experimental sample is critical. Previously used techniques such as using photographic film to identify the position, intensity and centroid of the beam is time-consuming and a faster method is required. PILATUS is a single-photon-counting pixel detector developed at the Paul Scherrer Institute (PSI), Switzerland. It i

This paper describes a named entity recognition (NER) system for short text messages (SMS) running on a mobile platform. Most NER systems deal with text that is structured, formal, well written, with a good grammatical structure, and few spelling errors. SMS text messages lack these qualities and have instead a short-handed and mixed language studded with emoticons, which makes NER a challenge on

The logistic regression model is frequently used in epidemiologic studies, yielding odds ratio or relative risk interpretations. Inspired by the theory of linear normal models, the logistic regression model has been extended to allow for correlated responses by introducing random effects. However, the model does not inherit the interpretational features of the normal model. In this paper, the auth

This thesis analyses the problem of how to organise a multidisciplinary domain of knowledge like architecture. The study is both theoretical and empirical. The theoretical part include discussions of theories of knowledge organisation. Two different principles of classification were examined in relation to the domain itself, as well as in relation to the educational programme at the School of Arch

Young women with immigrant background are generally looked upon as victims of patriarchal structures and cultural determinism. The purpose of this bachelor thesis was therefore to have a salutogen perspective. We investigated how young women with a transcultural background are affected by and how they use their experiences from different backgrounds in their creating of identity. We based our es

This Master's thesis aims at pinpointing the political arguments that appear in the recent debate on scientific publication. There is a widely spread opinion that prices on digital resources are far too high, thus taking up a major part of the University libraries budget, while publishing companies make high profits. It is also a common opinion that the current publishing method does not take