1,018 research outputs found

    Genome-wide linkage analysis of systolic blood pressure: a comparison of two approaches to phenotype definition

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    Problem 1 of the Genetic Analysis Workshop 13(GAW13) contains longitudinal data of cardiovascular measurements from 330 pedigrees. The longitudinal data complicates the phenotype definition because multiple measurements are taken on each individual. To address this complication, we propose an approach that uses generalized estimating equations to obtain residuals for each time point for each person. The mean residual is then taken as the new phenotype with which to use in a variance components linkage analysis. We compare our phenotype definition approach to an approach that first reduces the multiple measurements to a single measurement and then models these summary statistics as regression terms in a variance components analysis. For each approach, multipoint linkage analysis was performed using the residuals and the SOLAR computer program. Our results show little difference between the methods based on the LOD scores

    Переяславська рада у сучасній російській навчальній літературі

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    Topological band-insulators (TBIs) represent a new class of quantum materials that in the presence of time-reversal symmetry (TRS) feature an insulating bulk bandgap together with metallic edge or surface states protected by a Z 2 topological invariant [1,2,3,4]. Recently, an extra layer in this Z 2 classification of TBIs has been uncovered by considering the crystal symmetries [5]. Dislocation lines being the unique topological defects related to the lattice translations play a fundamental role in this endeavor. We here elucidate the general rule governing their response in three-dimensional TBIs and uncover their role in this classification. According to that K-b-t rule, the lattice topology, represented by dislocation lines oriented in the direction t with the Burgers vector b , conspires with the electronic-band topology, characterized by the band-inversion momentum K inv , to produce gapless propagating modes along these line defects, which were discovered in Ref. [6]. For sufficiently symmetric crystals, this conspiracy leads to the topologically-protected metallic states inside the dislocation loops, which could also be important for applications. Finally, these findings are experimentally consequential as dislocation defects are ubiquitous in the real crystals

    Dual gauge field theory of quantum liquid crystals in two dimensions

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    We present a self-contained review of the theory of dislocation-mediated quantum melting at zero temperature in two spatial dimensions. The theory describes the liquid-crystalline phases with spatial symmetries in between a quantum crystalline solid and an isotropic superfluid: quantum nematics and smectics. It is based on an Abelian-Higgs-type duality mapping of phonons onto gauge bosons ("stress photons"), which encode for the capacity of the crystal to propagate stresses. Dislocations and disclinations, the topological defects of the crystal, are sources for the gauge fields and the melting of the crystal can be understood as the proliferation (condensation) of these defects, giving rise to the Anderson-Higgs mechanism on the dual side. For the liquid crystal phases, the shear sector of the gauge bosons becomes massive signaling that shear rigidity is lost. Resting on symmetry principles, we derive the phenomenological imaginary time actions of quantum nematics and smectics and analyze the full spectrum of collective modes. The quantum nematic is a superfluid having a true rotational Goldstone mode due to rotational symmetry breaking, and the origin of this 'deconfined' mode is traced back to the crystalline phase. The two-dimensional quantum smectic turns out to be a dizzyingly anisotropic phase with the collective modes interpolating between the solid and nematic in a non-trivial way. We also consider electrically charged bosonic crystals and liquid crystals, and carefully analyze the electromagnetic response of the quantum liquid crystal phases. In particular, the quantum nematic is a real superconductor and shows the Meissner effect. Their special properties inherited from spatial symmetry breaking show up mostly at finite momentum, and should be accessible by momentum-sensitive spectroscopy.Comment: Review article, 137 pages, 32 figures. Accepted versio

    High-resolution analysis of the pneumococcal transcriptome under a wide range of infection-relevant conditions.

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    Streptococcus pneumoniae is an opportunistic human pathogen that typically colonizes the nasopharyngeal passage and causes lethal disease in other host niches, such as the lung or the meninges. The expression and regulation of pneumococcal genes at different life-cycle stages, such as commensal or pathogenic, are not entirely understood. To chart the transcriptional responses of S. pneumoniae, we used RNA-seq to quantify the relative abundance of the transcriptome under 22 different infection-relevant conditions. The data demonstrated a high level of dynamic expression and, strikingly, all annotated pneumococcal genomic features were expressed in at least one of the studied conditions. By computing the correlation values of every pair of genes across all studied conditions, we created a co-expression matrix that provides valuable information on both operon structure and regulatory processes. The co-expression data are highly consistent with well-characterized operons and regulons, such as the PyrR, ComE and ComX regulons, and have allowed us to identify a new member of the competence regulon. Lastly, we created an interactive data center named PneumoExpress (https://veeninglab.com/pneumoexpress) that enables users to access the expression data as well as the co-expression matrix in an intuitive and efficient manner, providing a valuable resource to the pneumococcal research community

    The institutional and social construction of responsible investment

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    This paper provides a summary of the symposium on the institutional and social construction of Responsible Investment (RI), held at the 22nd IABS Conference. In the context of the symposium, we propose to move beyond the dominant focus on the financial impact of RI to consider the potential of emergent institutional and sociological perspectives to explain the practices and concepts related to RI. In doing so, our aim is to explore in greater detail the current changes in the RI infrastructure and the impact of these changes on wider issues of corporate sustainability and social responsibility

    De Doelen Declaration

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    Disorder-induced topological quantum phase transitions in Euler semimetals

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    We study the effect of disorder in systems having a non-trivial Euler class. As these recently proposed multi-gap topological phases come about by braiding non-Abelian charged band nodes residing between different bands to induce stable pairs within isolated band subspaces, novel properties that include a finite critical phase under the debraiding to a metal rather than a transition point and a modified stability may be expected when the disorder preserves the underlying C2TC_2\cal{T} or PT\cal{P}\cal{T} symmetry on average. Employing elaborate numerical computations, we verify the robustness of associated topology by evaluating the changes in the average densities of states and conductivities for different types of disorders. Upon performing a scaling analysis around the corresponding quantum critical points we retrieve a universality for the localization length exponent of ν=1.4±0.1\nu = 1.4 \pm 0.1 for Euler-protected phases, relating to 2D percolation models. We generically find that quenched disorder drives Euler semimetals into critical metallic phases. Finally, we show that magnetic disorder can also induce topological transitions to quantum anomalous Hall plaquettes with local Chern numbers determined by the initial value of the Euler invariant.Comment: 6+7 pages, 4+6 figure
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