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Correct phenotypic interpretation of variants of unknown significance for cancer-associated genes is a diagnostic challenge as genetic screenings gain in popularity in the next-generation sequencing era. The Critical Assessment of Genome Interpretation (CAGI) experiment aims to test and define the state of the art of genotype-phenotype interpretation. Here, we present the assessment of the CAGI p1
One of the world's most important and rapidly expanding crops, oil palm, is associated with low levels of biodiversity. Changes in predator communities might alter ecosystem services and subsequently sustainable management but these links have received little attention to date. Here, for the first time, we manipulated ant and flying vertebrate (birds and bats) access to oil palms in six smallholde
We consider designing demodulators for linear vector channels that use reduced-size trellis descriptions for the received signal. We assume an iterative receiver and use interference cancellation (IC) with soft-information provided by an outer decoder to mitigate the signal part that is not covered by a reduced-size trellis description. In order to reach a trellis description, a linear filter is a
The Environmental Determinants of Diabetes in the Young (TEDDY) is an international study aiming to investigate associations between dietary and other environmental factors and the risk of developing islet autoimmunity and type 1 diabetes. Dietary intake was assessed using a 24-h recall and repeated 3-day food records and analyzed using country-specific food composition databases (FCDBs) in Finlan
β-1,4-Galactosyltransferase 7 (β4GalT7) is a key enzyme in the biosynthesis of glycosaminoglycan (GAG) chains. Natural and synthetic xylosides can be used to both inhibit and prime GAG synthesis by acting as inhibitors or substrates for β4GalT7. In this report, we exploit hydroxylated oxanes as deoxygenated xyloside analogs to clarify the minimum protein-ligand interactions required for galactosyl
Neurological disorders are among the main clinical problems affecting preterm children and often result in the development of communication and learning disabilities later in life. Several factors are of importance for brain development, however the role of immunoglobulins (passive immunity transfer) has not yet been investigated. Piglets are born agammaglobulinemic, as a result of the lack of tra
BACKGROUND - Multiple laboratory tests are used to diagnose and manage patients with diabetes mellitus. The quality of the scientific evidence supporting the use of these tests varies substantially. APPROACH - An expert committee compiled evidence-based recommendations for the use of laboratory testing for patients with diabetes. A newsystemwas developed to grade the overall quality of the evidenc
The first European Stroke Organization (ESO) standard operating procedure (SOP) published in 2015 aimed at the implementation the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology to provide evidence-based guidelines for stroke management. This second ESO-SOP is aiming at further increase of the practicability of ESO guidelines and its technical implications. A
Book Review
A miniaturized thermal biosensor has been evaluated as part of a flow-injection analysis system for the determination of glucose in whole blood. Glucose was determined by measuring the heat evolved when samples containing glucose passed through a small column with immobilized glucose oxidase and catalase. Samples of whole blood (1 μl) can be measured directly, without any pretreatment. The correla
Thiol-ene photocurable systems based on a trifunctional thiol [trimethylolpropane tris-(3-mercaptopropanoate)] and two different multifunctional allyl ethers (trimethylolpropane triallyl ether and Boltorn U2, an allyl functional dendritic polyester) were examined. To these systems, small amounts (<1 wt%) of fluorinated allyl ethers were added for the modification of their surface properties. Two n
Degrowth thought and strategies suffer from a tension between viewing the state as incapable of initiating transformational change and making a political appeal to it to do precisely this via targeted eco-social policies. While a small number of academic papers has theoretically addressed this tension, there is a lack in research on the strategic implications arising from conceptualizations of the
In 2009, the International Soil Moisture Network (ISMN) was initiated as a community effort, funded by the European Space Agency, to serve as a centralised data hosting facility for globally available in situ soil moisture measurements . The ISMN brings together in situ soil moisture measurements collected and freely shared by a multitude of organisations, harmonises them in terms of units and sam
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 yet to be defined. In this study, we manually curated 1235 SVs which can ultimately be used to evaluate SV callers ortrain machine learning models. We devel
