Effect of the Tunneling Conductance on the Coulomb Staircase

Quantum fluctuations of the charge in the single electron box are investigated. The rounding of the Coulomb staircase caused by virtual electron tunneling is determined by perturbation theory up to third order in the tunneling conductance and compared with precise Monte Carlo data computed with a new algorithm. The remarkable agreement for large conductance indicates that presently available experimental data on Coulomb charging effects in metallic nanostructures can be well explained by finite order perturbative results.Comment: 4 pages, 5 figure

Charge Fluctuations in the Single Electron Box

Quantum fluctuations of the charge in the single electron box are investigated. Based on a diagrammatic expansion we calculate the average island charge number and the effective charging energy in third order in the tunneling conductance. Near the degeneracy point where the energy of two charge states coincides, the perturbative approach fails, and we explicitly resum the leading logarithmic divergencies to all orders. The predictions for zero temperature are compared with Monte Carlo data and with recent renormalization group results. While good agreement between the third order result and numerical data justifies the perturbative approach in most of the parameter regime relevant experimentally, near the degeneracy point and at zero temperature the resummation is shown to be insufficient to describe strong tunneling effects quantitatively. We also determine the charge noise spectrum employing a projection operator technique. Former perturbative and semiclassical results are extended by the approach.Comment: 20 pages, 15 figure

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD

International AIDS Society global scientific strategy: towards an HIV cure 2016

Antiretroviral therapy is not curative. Given the challenges in providing life-long therapy to a global population of over 35 million people living with HIV, there is intense interest in developing a cure for HIV infection. The International AIDS Society convened a group of international experts to develop a scientific strategy for research towards an HIV cure. This Perspective summarizes the group's strategy

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways

Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a sample of ~3 million individuals and identify 3,952 approximately uncorrelated genome-wide-significant single-nucleotide polymorphisms (SNPs). A genome-wide polygenic predictor, or polygenic index (PGI), explains 12-16% of EA variance and contributes to risk prediction for ten diseases. Direct effects (i.e., controlling for parental PGIs) explain roughly half the PGI's magnitude of association with EA and other phenotypes. The correlation between mate-pair PGIs is far too large to be consistent with phenotypic assortment alone, implying additional assortment on PGI-associated factors. In an additional GWAS of dominance deviations from the additive model, we identify no genome-wide-significant SNPs, and a separate X-chromosome additive GWAS identifies 57

A survey for variable young stars with small telescopes: IX - Evolution of spot properties on YSOs in IC 5070

We present spot properties on 32 periodic young stellar objects in IC 5070. Long term, ∼5 yr, light curves in the V, R, and I-bands are obtained through the HOYS (Hunting Outbursting Young Stars) citizen science project. These are dissected into six months long slices, with 3 months oversampling, to measure 234 sets of amplitudes in all filters. We fit 180 of these with reliable spot solutions. Two thirds of spot solutions are cold spots, the lowest is 2150 K below the stellar temperature. One third are warm spots that are above the stellar temperature by less than ∼2000 K. Cold and warm spots have maximum surface coverage values of 40 per cent, although only 16 per cent of warm spots are above 20 per cent surface coverage as opposed to 60 per cent of the cold spots. Warm spots are most likely caused by a combination of plages and low density accretion columns, most common on objects without inner disc excess emission in K − W2. Five small hot spot solutions have <3 percent coverage and are 3000 – 5000 K above the stellar temperature. These are attributed to accretion, and four of them occur on the same object. The majority of our objects are likely to be accreting. However, we observe very few accretion hot spots as either the accretion is not stable on our timescale or the photometry is dominated by other features. We do not identify cyclical spot behaviour on the targets. We additionally identify and discuss a number of objects that have interesting amplitudes, phase changes, or spot properties

International AIDS Society global scientific strategy: towards an HIV cure 2016

Antiretroviral therapy is not curative. Given the challenges in providing lifelong therapy to a global population of more than 35 million people living with HIV, there is intense interest in developing a cure for HIV infection. The International AIDS Society convened a group of international experts to develop a scientific strategy for research towards an HIV cure. This Perspective summarizes the group's strategy

Genome-wide association study identifies 74 loci associated with educational attainment

Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals1. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample1,2 of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases