Current and future approaches to classify VUSs in LGMD-related genes

Next-generation sequencing (NGS) has revealed large numbers of genetic variants in LGMD-related genes, with most of them classified as variants of uncertain significance (VUSs). VUSs are genetic changes with unknown pathological impact and present a major challenge in genetic test interpretation and disease diagnosis. Understanding the phenotypic consequences of VUSs can provide clinical guidance regarding LGMD risk and therapy. In this review, we provide a brief overview of the subtypes of LGMD, disease diagnosis, current classification systems for investigating VUSs, and a potential deep mutational scanning approach to classify VUSs in LGMD-related genes

Highly-ordered graphene for two dimensional electronics

With expanding interest in graphene-based electronics, it is crucial that high quality graphene films be grown. Sublimation of Si from the 4H-SiC(0001) Si-terminated) surface in ultrahigh vacuum is a demonstrated method to produce epitaxial graphene sheets on a semiconductor. In this paper we show that graphene grown from the SiC$(000\bar{1})$ (C-terminated) surface are of higher quality than those previously grown on SiC(0001). Graphene grown on the C-face can have structural domain sizes more than three times larger than those grown on the Si-face while at the same time reducing SiC substrate disorder from sublimation by an order of magnitude.Comment: Submitted to Appl. Phys. Let

On the exponential decay of the Euler-Bernoulli beam with boundary energy dissipation

We study the asymptotic behavior of the Euler-Bernoulli beam which is clamped at one end and free at the other end. We apply a boundary control with memory at the free end of the beam and prove that the "exponential decay" of the memory kernel is a necessary and sufficient condition for the exponential decay of the energy.Comment: 13 page

Sensitivity of the Cherenkov Telescope Array to the detection of a dark matter signal in comparison to direct detection and collider experiments

Imaging atmospheric Cherenkov telescopes (IACTs) that are sensitive to potential $\gamma$-ray signals from dark matter (DM) annihilation above $\sim50$ GeV will soon be superseded by the Cherenkov Telescope Array (CTA). CTA will have a point source sensitivity an order of magnitude better than currently operating IACTs and will cover a broad energy range between 20 GeV and 300 TeV. Using effective field theory and simplified models to calculate $\gamma$-ray spectra resulting from DM annihilation, we compare the prospects to constrain such models with CTA observations of the Galactic center with current and near-future measurements at the Large Hadron Collider (LHC) and direct detection experiments. For DM annihilations via vector or pseudoscalar couplings, CTA observations will be able to probe DM models out of reach of the LHC, and, if DM is coupled to standard fermions by a pseudoscalar particle, beyond the limits of current direct detection experiments.Comment: Accepted for publication in PRD. 20 pages, 11 figure

The structural properties of the multi-layer graphene/4H-SiC(000-1) system as determined by Surface X-ray Diffraction

We present a structural analysis of the multi-layer graphene-4HSiC(000-1}) system using Surface X-Ray Reflectivity. We show for the first time that graphene films grown on the C-terminated (000-1}) surface have a graphene-substrate bond length that is very short (0.162nm). The measured distance rules out a weak Van der Waals interaction to the substrate and instead indicates a strong bond between the first graphene layer and the bulk as predicted by ab-initio calculations. The measurements also indicate that multi-layer graphene grows in a near turbostratic mode on this surface. This result may explain the lack of a broken graphene symmetry inferred from conduction measurements on this system [C. Berger et al., Science 312, 1191 (2006)].Comment: 9 pages with 6 figure

The Zipf law for random texts with unequal probabilities of occurrence of letters and the Pascal pyramid

We model the generation of words with independent unequal probabilities of occurrence of letters. We prove that the probability $p(r)$ of occurrence of words of rank $r$ has a power asymptotics. As distinct from the paper published earlier by B. Conrad and M. Mitzenmacher, we give a brief proof by elementary methods and obtain an explicit formula for the exponent of the power law.Comment: 4 page

Reconstructing the direction of reactor antineutrinos via electron scattering in Gd-doped water Cherenkov detectors

The potential of elastic antineutrino-electron scattering in a Gd-doped water Cherenkov detector to determine the direction of a nuclear reactor antineutrino flux was investigated using the recently proposed WATCHMAN antineutrino experiment as a baseline model. The expected scattering rate was determined assuming a 13-km standoff from a 3.758-GWt light water nuclear reactor and the detector response was modeled using a Geant4-based simulation package. Background was estimated via independent simulations and by scaling published measurements from similar detectors. Background contributions were estimated for solar neutrinos, misidentified reactor-based inverse beta decay interactions, cosmogenic radionuclides, water-borne radon, and gamma rays from the photomultiplier tubes (PMTs), detector walls, and surrounding rock. We show that with the use of low background PMTs and sufficient fiducialization, water-borne radon and cosmogenic radionuclides pose the largest threats to sensitivity. Directional sensitivity was then analyzed as a function of radon contamination, detector depth, and detector size. The results provide a list of experimental conditions that, if satisfied in practice, would enable antineutrino directional reconstruction at 3$\sigma$ significance in large Gd-doped water Cherenkov detectors with greater than 10-km standoff from a nuclear reactor.Comment: 11 pages, 9 figure

Recent updates on incubation of drug craving: a mini-review

Cue-induced drug craving progressively increases after prolonged withdrawal from drug self-administration in laboratory animals, a behavioral phenomenon termed 'incubation of drug craving.' Studies over the years have revealed several important neural mechanisms contributing to incubation of drug craving. In this mini-review, we first discuss three excellent Addiction Biology publications on incubation of drug craving in both human and laboratory animals. We then review several key publications from the past year on behavioral and mechanistic findings related to incubation of drug craving