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PURPOSE: Disruption of splicing motifs by genetic variants can affect the correct generation of mature mRNA molecules leading to aberrant transcripts. In some cases, variants may alter the physiological transcription profile composed of several transcripts, and an accurate in vitro evaluation is crucial to establish their pathogenicity. In this study, we have characterized a novel PALB2 variant c.

PURPOSE: Few and small studies have been reported about multigene testing usage by massively parallel sequencing in European cancer families. There is an open debate about what genes should be tested, and the actionability of some included genes is under research.METHODS: We investigated a panel of 34 known high/moderate-risk cancer genes, including 16 related to breast or ovarian cancer (BC/OC) g

In silico tools for splicing defect prediction have a key role to assess the impact of variants of uncertain significance. Our aim was to evaluate the performance of a set of commonly used splicing in silico tools comparing the predictions against RNA in vitro results. This was done for natural splice sites of clinically relevant genes in hereditary breast/ovarian cancer (HBOC) and Lynch syndrome.

Lebanon has a highly fragmented health care system. The Lebanese population receives its health care services through a system dominated by the private sector that is dependent to a large extent on public sector financing. Lebanon spends about 83% of its Gross Domestic Product (GDP) on health. This study consists of observations on the utilization of the Ministry of Public Health (MOH) program of

Communities of practice (CoPs) represent a broad range of work situations characterized by shared knowledge and situated knowledge use. Although CoPs have been studied rather extensively, discussions of control in CoPs are rarer. This is peculiar because CoPs are characterized by a common tension in contemporary work: on the one hand, CoPs are expected to autonomously “think together,” but on the

Despite the creativity of the scientific community and the funding agencies, the underlying model of computation behind IoT, WSN, cloud, edge, fog, and mist is fundamentally the same; Computational nodes which are dynamically interconnected to form a system in where both processing capacity and connectivity may vary over time. On top of such a system, we consider applications that need packets to

The global society is dependent on transportation to function and a big part of these transports are driven by an internal combustion engine. Heavy-duty vehicles utilizes conventional diesel combustion is a combustion concept where the fuel is often ignited during the injection event and while it gives a high combustion efficiency, the combustion mode is also characterized by high emission of NOx

Understanding how drugs work is of great importance, since it can facilitate drug discovery, both time- and costwise. At the same time, it is important to have methods that can help predict how well does a potential drug molecule bind to its target. Computational methods can in many ways contribute to drug design process. In this thesis, we employ different computational approaches to study the biUnderstanding how drugs work is of great importance, since it can facilitate drug discovery, both time- and costwise. At the same time, it is important to have methods that can help predict how well does a potential drug molecule bind to its target. Computational methods can in many ways contribute to drug design process. In this thesis, we employ different computational approaches to study the bi

Background: An increasing proportion of physicians are women, yet they still face challenges with career advancement. In 2014, the European Stroke Organisation established the goal of increasing the number and participation of women within the society using a Top Down and Bottom Up approach. The ‘Women’s Initiative for Stroke in Europe’ was created the same year by a group of women active within t

The interior of living cells is a dense and polydisperse suspension of macromolecules. Such a complex system challenges an understanding in terms of colloidal suspensions. As a fundamental test we employ neutron spectroscopy to measure the diffusion of tracer proteins (immunoglobulins) in a cell-like environment (cell lysate) with explicit control over crowding conditions. In combination with Sto

We discuss a parameter-free and computationally efficient ab initio simulation approach for moderately and strongly correlated materials, the multitier self-consistent GW+EDMFT method. This scheme treats different degrees of freedom, such as high-energy and low-energy bands, or local and nonlocal interactions, within appropriate levels of approximation, and provides a fully self-consistent descrip

Rate-dependent effects in the electronics used to instrument the tagger focal plane at the MAX IV Laboratory were recently investigated using the novel approach of Monte Carlo simulation to allow for normalization of high-rate experimental data acquired with single-hit time-to-digital converters (TDCs). The instrumentation of the tagger focal plane has now been expanded to include multi-hit TDCs.