Real photons produced from photoproduction in pppp collisions

We calculate the production of real photons originating from the photoproduction in relativistic $pp$ collisions. The Weizs$\ddot{\mathrm{a}}$cker-Williams approximation in the photoproduction is considered. Numerical results agree with the experimental data from Relativistic Heavy Ion Collider (RHIC) and Large Hadron Collider (LHC). We find that the modification of the photoproduction is more prominent in large transverse momentum region.Comment: 2 figure

Discovery of novel variants in genotyping arrays improves genotype retention and reduces ascertainment bias

<p>Abstract</p> <p>Background</p> <p>High-density genotyping arrays that measure hybridization of genomic DNA fragments to allele-specific oligonucleotide probes are widely used to genotype single nucleotide polymorphisms (SNPs) in genetic studies, including human genome-wide association studies. Hybridization intensities are converted to genotype calls by clustering algorithms that assign each sample to a genotype class at each SNP. Data for SNP probes that do not conform to the expected pattern of clustering are often discarded, contributing to ascertainment bias and resulting in lost information - as much as 50% in a recent genome-wide association study in dogs.</p> <p>Results</p> <p>We identified atypical patterns of hybridization intensities that were highly reproducible and demonstrated that these patterns represent genetic variants that were not accounted for in the design of the array platform. We characterized variable intensity oligonucleotide (VINO) probes that display such patterns and are found in all hybridization-based genotyping platforms, including those developed for human, dog, cattle, and mouse. When recognized and properly interpreted, VINOs recovered a substantial fraction of discarded probes and counteracted SNP ascertainment bias. We developed software (MouseDivGeno) that identifies VINOs and improves the accuracy of genotype calling. MouseDivGeno produced highly concordant genotype calls when compared with other methods but it uniquely identified more than 786000 VINOs in 351 mouse samples. We used whole-genome sequence from 14 mouse strains to confirm the presence of novel variants explaining 28000 VINOs in those strains. We also identified VINOs in human HapMap 3 samples, many of which were specific to an African population. Incorporating VINOs in phylogenetic analyses substantially improved the accuracy of a <it>Mus </it>species tree and local haplotype assignment in laboratory mouse strains.</p> <p>Conclusion</p> <p>The problems of ascertainment bias and missing information due to genotyping errors are widely recognized as limiting factors in genetic studies. We have conducted the first formal analysis of the effect of novel variants on genotyping arrays, and we have shown that these variants account for a large portion of miscalled and uncalled genotypes. Genetic studies will benefit from substantial improvements in the accuracy of their results by incorporating VINOs in their analyses.</p

Whole exome sequencing in patients with Williams-Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk

Supravalvular aortic stenosis (SVAS) is a narrowing of the aorta caused by elastin (ELN) haploinsufficiency. SVAS severity varies among patients with Williams-Beuren syndrome (WBS), a rare disorder that removes one copy of ELN and 25-27 other genes. Twenty percent of children with WBS require one or more invasive and often risky procedures to correct the defect while 30% have no appreciable stenosis, despite sharing the same basic genetic lesion. There is no known medical therapy. Consequently, identifying genes that modify SVAS offers the potential for novel modifier-based therapeutics. To improve statistical power in our rare-disease cohort (N = 104 exomes), we utilized extreme-phenotype cohorting, functional variant filtration and pathway-based analysis. Gene set enrichment analysis of exome-wide association data identified increased adaptive immune system variant burden among genes associated with SVAS severity. Additional enrichment, using only potentially pathogenic variants known to differ in frequency between the extreme phenotype subsets, identified significant association of SVAS severity with not only immune pathway genes, but also genes involved with the extracellular matrix, G protein-coupled receptor signaling and lipid metabolism using both SKAT-O and RQTest. Complementary studies in Eln+/-; Rag1-/- mice, which lack a functional adaptive immune system, showed improvement in cardiovascular features of ELN insufficiency. Similarly, studies in mixed background Eln+/- mice confirmed that variations in genes that increase elastic fiber deposition also had positive impact on aortic caliber. By using tools to improve statistical power in combination with orthogonal analyses in mice, we detected four main pathways that contribute to SVAS risk

Is There Only One Solution of the Dyson-Schwinger Equation for Quark Propagator in the Case of Non-zero Current Quark Mass

In this letter it is shown on general ground that there exist two qualitatively distinct solutions of the Dyson-Schwinger equation for the quark propagator in the case of non-zero current quark mass. One solution corresponds to the ``Nambu-Goldstone'' phase and the other one corresponds to the ``Wigner'' phase in the chiral limit.Comment: 7 page

Efficient symmetric multiparty quantum state sharing of an arbitrary m-qubit state

We present a scheme for symmetric multiparty quantum state sharing of an arbitrary $m$-qubit state with $m$ Greenberger-Horne-Zeilinger states following some ideas from the controlled teleportation [Phys. Rev. A \textbf{72}, 02338 (2005)]. The sender Alice performs $m$ Bell-state measurements on her $2m$ particles and the controllers need only to take some single-photon product measurements on their photons independently, not Bell-state measurements, which makes this scheme more convenient than the latter. Also it does not require the parties to perform a controlled-NOT gate on the photons for reconstructing the unknown $m$-qubit state and it is an optimal one as its efficiency for qubits approaches the maximal value.Comment: 6 pages, no figures; It simplifies the process for sharing an arbitrary m-qubit state in Phys. Rev. A 72, 022338 (2005) (quant-ph/0501129

The multiple solutions of self-consistency condition in Walecka model and the validity of the Brown-Rho scaling law

We investigate the self-consistency condition (SCC) of mean-field theory in Walecka model and find that the solutions of the SCC are multiple at high temperature and chemical potential. Using the effective Lagrangian approach, we study medium effects on the $\omega$ meson mass by taking into account of vacuum effects. We show that the $\omega$ meson mass decreases with both temperature and chemical potential with a general tendency, while near the critical point several $\omega$ meson masses become degenerate due to the multiple solutions of the SCC. We check the validity of Brown-Rho scaling law in this case. Finally, we calculate the thermodynamic potential and prove that the multiple solutions of the SCC result from a first-order phase transition of nuclear matter in the Walecka model at high temperature and chemical potential.Comment: 10 pages in Revtex with 9 figure

Microwave studies of the fractional Josephson effect in HgTe-based Josephson junctions

The rise of topological phases of matter is strongly connected to their potential to host Majorana bound states, a powerful ingredient in the search for a robust, topologically protected, quantum information processing. In order to produce such states, a method of choice is to induce superconductivity in topological insulators. The engineering of the interplay between superconductivity and the electronic properties of a topological insulator is a challenging task and it is consequently very important to understand the physics of simple superconducting devices such as Josephson junctions, in which new topological properties are expected to emerge. In this article, we review recent experiments investigating topological superconductivity in topological insulators, using microwave excitation and detection techniques. More precisely, we have fabricated and studied topological Josephson junctions made of HgTe weak links in contact with two Al or Nb contacts. In such devices, we have observed two signatures of the fractional Josephson effect, which is expected to emerge from topologically-protected gapless Andreev bound states. We first recall the theoretical background on topological Josephson junctions, then move to the experimental observations. Then, we assess the topological origin of the observed features and conclude with an outlook towards more advanced microwave spectroscopy experiments, currently under development.Comment: Lectures given at the San Sebastian Topological Matter School 2017, published in "Topological Matter. Springer Series in Solid-State Sciences, vol 190. Springer

NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in ER-positive breast tumors without TP53 mutations

<p>Abstract</p> <p>Background</p> <p>A recent genome-wide association study (GWAS) has identified a single nucleotide polymorphism (SNP) rs11249433 in the 1p11.2 region as a novel genetic risk factor for breast cancer, and this association was stronger in patients with estrogen receptor (ER)⁺versus ER^-cancer.</p> <p>Results</p> <p>We found association between SNP rs11249433 and expression of the <it>NOTCH2 </it>gene located in the 1p11.2 region. Examined in 180 breast tumors, the expression of <it>NOTCH2 </it>was found to be lowest in tumors with <it>TP53 </it>mutations and highest in <it>TP53 </it>wild-type/ER⁺tumors (p = 0.0059). In the latter group, the <it>NOTCH2 </it>expression was particularly increased in carriers of the risk genotypes (AG/GG) of rs11249433 when compared to the non-risk AA genotype (p = 0.0062). Similar association between <it>NOTCH2 </it>expression and rs11249433 was observed in 60 samples of purified monocytes from healthy controls (p = 0.015), but not in total blood samples from 302 breast cancer patients and 76 normal breast tissue samples. We also identified the first possible dominant-negative form of <it>NOTCH2</it>, a truncated version of <it>NOTCH2 </it>consisting of only the extracellular domain.</p> <p>Conclusion</p> <p>This is the first study to show that the expression of <it>NOTCH2 </it>differs in subgroups of breast tumors and by genotypes of the breast cancer-associated SNP rs11249433. The NOTCH pathway has key functions in stem cell differentiation of ER⁺luminal cells in the breast. Therefore, increased expression of <it>NOTCH2 </it>in carriers of rs11249433 may promote development of ER⁺luminal tumors. Further studies are needed to investigate possible mechanisms of regulation of <it>NOTCH2 </it>expression by rs11249433 and the role of <it>NOTCH2 </it>splicing forms in breast cancer development.</p