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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

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

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

BACKGROUND: Early life risk factors are associated with cardiometabolic disease, but have not been fully studied in atrial fibrillation (AF). There are discordant results from existing studies of birth weight and AF, and the impact of maternal body size, gestational age, placental size, and birth length is unknown.METHODS AND RESULTS: The Helsinki Birth Cohort Study includes 13 345 people born as

The aim of model calibration is to estimate unique parameter values from available experimental data, here applied to a biocatalytic process. The traditional approach of first gathering data followed by performing a model calibration is inefficient, since the information gathered during experimentation is not actively used to optimize the experimental design. By applying an iterative robust model-

The Harmonized Parabolic Synthesis methodology is a further development of the Parabolic Synthesis methodology for approximation of unary functions such as trigonometric functions, logarithms and the square root with moderate accuracy for ASIC implementation. These functions are extensively used in computer graphics, communication systems and many other application areas. For these high-speed appl

We have investigated the acid-unfolded state of acyl-coenzyme A binding protein (ACBP) using N-15 laboratory frame nuclear magnetic resonance (NMR) relaxation experiments at three magnetic field strengths. The data have been analyzed using standard model-free fitting and models involving distribution of correlation times. In particular, a model-independent method of analysis that does not assume a

The physical nature of water and the environment it presents to an organism have long been recognized as important constraints on aquatic adaptation and evolution. Little is known about the dermal cover of mosasauroids (a group of secondarily aquatic reptiles that occupied a wide array of predatory niches in the Cretaceous marine ecosystems 92-65 Myr ago), a lack of information that has hindered i

Although randomized controlled trials (RCT) are the gold standard for establishing causation in clinical research, their aggregated results can be misleading when applied to individual patients. A treatment may be beneficial in some patients, but its harms may outweigh benefits in others. While conventional one-variable-at-a-time subgroup analyses have well-known limitations, multivariable risk-ba

The pre-Talpha (pTalpha[?]) gene encodes a protein that forms the pre-TCR together with the newly expressed TCR beta chain during a defined stage of early T cell development. The restricted expression of this gene has been suggested to depend on a promoter and an enhancer element containing E boxes, which are potential binding sites for basic helix-loop-helix (bHLH) proteins. We here report that i

Process parameters for the extraction of glycolipids by scCO(2) from Lactobacillus plantarum B-01 were optimized by carrying out a two-level fractional design experiment. The highest glycolipids extract yield was obtained at 250 bar, 40 degrees C, CO2 flow rate, 10 g/min and hydrometanolic co-solvent, 9.3% (v/v). In the lipid extracts the carbohydrate moiety of glycolipids and in phospholipids pho

We characterize and control the harmonic emission in the spectral and spatial domains in order to define in which conditions the harmonic radiation can be a high-quality seed for soft x-ray and x-ray free-electron lasers. The length of the gas cell, where harmonics are generated, was optimized and the energy per pulse was determined in absolute value with a calibrated x-ray photodiode. The beam sp

The Kernel Density Estimator (KDE) is a versatile nonparametric technique with very good theoretical properties. It is used to obtain "smoothed histograms," which allows several distributions to be presented and analyzed more easily on one graph, and direct combination into average distributions. The application of the KDE method as a visual aid for the analysis of distributions of muscle fiber ar

Confidentiality is a major determinant of the accessibility and acceptability of sexual and reproductive health care for adolescents. Previous research has revealed that Lithuanian adolescents lack confidence in guarantees of confidentiality in primary health care settings. This study aimed to assess the factors that affect general practitioners' decisions whether to respect confidentiality for Li