pinecone/core-2020-05-10-deduplication huggingface dataset:
Exome Sequencing Followed by Large-Scale Genotyping Suggests a Limited Role for Moderately Rare Risk Factors of Strong Effect in Schizophrenia

Schizophrenia is a severe psychiatric disorder with strong heritability and marked heterogeneity in symptoms, course, and treatment response. There is strong interest in identifying genetic risk factors that can help to elucidate the pathophysiology and that might result in the development of improved treatments. Linkage and genome-wide association studies (GWASs) suggest that the genetic basis of schizophrenia is heterogeneous. However, it remains unclear whether the underlying genetic variants are mostly moderately rare and can be identified by the genotyping of variants observed in sequenced cases in large follow-up cohorts or whether they will typically be much rarer and therefore more effectively identified by gene-based methods that seek to combine candidate variants. Here, we consider 166 persons who have schizophrenia or schizoaffective disorder and who have had either their genomes or their exomes sequenced to high coverage. From these data, we selected 5,155 variants that were further evaluated in an independent cohort of 2,617 cases and 1,800 controls. No single variant showed a study-wide significant association in the initial or follow-up cohorts. However, we identified a number of case-specific variants, some of which might be real risk factors for schizophrenia, and these can be readily interrogated in other data sets. Our results indicate that schizophrenia risk is unlikely to be predominantly influenced by variants just outside the range detectable by GWASs. Rather, multiple rarer genetic variants must contribute substantially to the predisposition to schizophrenia, suggesting that both very large sample sizes and gene-based association tests will be required for securely identifying genetic risk factors
Measurement of the dependence of transverse energy production at large pseudorapidity on the hard-scattering kinematics of proton–proton collisions at s=2.76 TeV with ATLAS

AbstractThe relationship between jet production in the central region and the underlying-event activity in a pseudorapidity-separated region is studied in 4.0 pb−1 of s=2.76 TeV pp collision data recorded with the ATLAS detector at the LHC. The underlying event is characterised through measurements of the average value of the sum of the transverse energy at large pseudorapidity downstream of one of the protons, which are reported here as a function of hard-scattering kinematic variables. The hard scattering is characterised by the average transverse momentum and pseudorapidity of the two highest transverse momentum jets in the event. The dijet kinematics are used to estimate, on an event-by-event basis, the scaled longitudinal momenta of the hard-scattered partons in the target and projectile beam-protons moving toward and away from the region measuring transverse energy, respectively. Transverse energy production at large pseudorapidity is observed to decrease with a linear dependence on the longitudinal momentum fraction in the target proton and to depend only weakly on that in the projectile proton. The results are compared to the predictions of various Monte Carlo event generators, which qualitatively reproduce the trends observed in data but generally underpredict the overall level of transverse energy at forward pseudorapidity
Syndromes of collateral-reported psychopathology for ages 18-59 in 18 Societies

AbstractThe purpose was to advance research and clinical methodology for assessing psychopathology by testing the international generalizability of an 8-syndrome model derived from collateral ratings of adult behavioral, emotional, social, and thought problems. Collateral informants rated 8,582 18-59-year-old residents of 18 societies on the Adult Behavior Checklist (ABCL). Confirmatory factor analyses tested the fit of the 8-syndrome model to ratings from each society. The primary model fit index (Root Mean Square Error of Approximation) showed good model fit for all societies, while secondary indices (Tucker Lewis Index, Comparative Fit Index) showed acceptable to good fit for 17 societies. Factor loadings were robust across societies and items. Of the 5,007 estimated parameters, 4 (0.08%) were outside the admissible parameter space, but 95% confidence intervals included the admissible space, indicating that the 4 deviant parameters could be due to sampling fluctuations. The findings are consistent with previous evidence for the generalizability of the 8-syndrome model in self-ratings from 29 societies, and support the 8-syndrome model for operationalizing phenotypes of adult psychopathology from multi-informant ratings in diverse societies
Optimising charged Higgs boson searches at the Large Hadron Collider across bb¯W± final states

AbstractIn the light of the most recent data from Higgs boson searches and analyses, we re-assess the scope of the Large Hadron Collider in accessing heavy charged Higgs boson signals in bb¯W± final states, wherein the contributing channels can be H+→tb¯, hW±, HW± and AW±. We consider a 2-Higgs Doublet Model Type-II and we assume as production mode bg→tH−+c.c., the dominant one over the range MH±≥480 GeV, as dictated by b→sγ constraints. Prospects of detection are found to be significant for various Run 2 energy and luminosity options
The effect of oil sands process-affected water and model naphthenic acids on photosynthesis and growth in Emiliania huxleyi and Chlorella vulgaris

AbstractNaphthenic acids (NAs) are among the most toxic organic pollutants present in oil sands process waters (OSPW) and enter marine and freshwater environments through natural and anthropogenic sources. We investigated the effects of the acid extractable organic (AEO) fraction of OSPW and individual surrogate NAs, on maximum photosynthetic efficiency of photosystem II (PSII) (FV/FM) and cell growth in Emiliania huxleyi and Chlorella vulgaris as representative marine and freshwater phytoplankton. Whilst FV/FM in E. huxleyi and C. vulgaris was not inhibited by AEO, exposure to two surrogate NAs: (4′-n-butylphenyl)-4-butanoic acid (n-BPBA) and (4′-tert-butylphenyl)-4-butanoic acid (tert-BPBA), caused complete inhibition of FV/FM in E. huxleyi (≥10 mg L−1 n-BPBA; ≥50 mg L−1 tert-BPBA) but not in C. vulgaris. Growth rates and cell abundances in E. huxleyi were also reduced when exposed to ≥10 mg L−1 n- and tert-BPBA; however, higher concentrations of n- and tert-BPBA (100 mg L−1) were required to reduce cell growth in C. vulgaris. AEO at ≥10 mg L−1 stimulated E. huxleyi growth rate (p ≤ 0.002), yet had no apparent effect on C. vulgaris. In conclusion, E. huxleyi was generally more sensitive to NAs than C. vulgaris. This report provides a better understanding of the physiological responses of phytoplankton to NAs which will enable improved monitoring of NA pollution in aquatic ecosystems in the future
Associations between maternal older age, family environment and parent and child wellbeing in families using assisted reproductive techniques to conceive

AbstractMaternal age effects on parenting and family outcomes are of increasing interest because of the demographic shift toward older maternal age at first birth. Maternal age is also of interest because of the greater use of assisted reproductive techniques (ART) to bypass age-related infertility in couples trying to conceive late in the reproductive life cycle of the woman. The aim of the present study was to investigate maternal age effects associated with delayed parenting by comparing families of mothers who gave birth at a younger (<31 years) or older (>38 years) age and to ascertain whether associations were linear associations by comparing these groups to women who had conceived in between these ages (i.e., >31 and <38 years). All children (4–11 year olds) were first-born and conceived using ART. Participants were recruited from one of 20 fertility clinics and mothers (n=642) and fathers (n=439) completed a postal questionnaire about demographic and reproductive characteristics, family environment as well as parent and child wellbeing. Our results demonstrate that parenthood via assisted conception later in the reproductive life cycle is not associated with a negative impact on child wellbeing. Despite maternal age-group differences on demographic (education, income) and reproductive characteristics (bleeding during pregnancy, caesarean rate, breast feeding), and parental warmth and depressive symptoms, child wellbeing was similar across mother age groups. We conclude that the parenting context is different for older mother families (more depressive symptoms in mothers and fathers, less expressed warmth in the couple) but that this difference is not associated with child wellbeing in early and middle childhood
Topological insulators and superconductors from D-brane

AbstractRealization of topological insulators (TIs) and superconductors (TSCs), such as the quantum spin Hall effect and the Z2 topological insulator, in terms of D-branes in string theory is proposed. We establish a one-to-one correspondence between the K-theory classification of TIs/TSCs and D-brane charges. The string theory realization of TIs and TSCs comes naturally with gauge interactions, and the Wess–Zumino term of the D-branes gives rise to a gauge field theory of topological nature. This sheds light on TIs and TSCs beyond non-interacting systems, and the underlying topological field theory description thereof
Whole-mantle convection with tectonic plates preserves long-term global patterns of upper mantle geochemistry.

Supplementary information accompanies this paper at doi:10.1038/s41598-017-01816-yThe evolution of the planetary interior during plate tectonics is controlled by slow convection within the mantle. Global-scale geochemical differences across the upper mantle are known, but how they are preserved during convection has not been adequately explained. We demonstrate that the geographic patterns of chemical variations around the Earth's mantle endure as a direct result of whole-mantle convection within largely isolated cells defined by subducting plates. New 3D spherical numerical models embedded with the latest geological paleo-tectonic reconstructions and ground-truthed with new Hf-Nd isotope data, suggest that uppermost mantle at one location (e.g. under Indian Ocean) circulates down to the core-mantle boundary (CMB), but returns within ≥100 Myrs via large-scale convection to its approximate starting location. Modelled tracers pool at the CMB but do not disperse ubiquitously around it. Similarly, mantle beneath the Pacific does not spread to surrounding regions of the planet. The models fit global patterns of isotope data and may explain features such as the DUPAL anomaly and long-standing differences between Indian and Pacific Ocean crust. Indeed, the geochemical data suggests this mode of convection could have influenced the evolution of mantle composition since 550 Ma and potentially since the onset of plate tectonics.This research was made possible by NERC fellowship grant and NIGL steering committee grant NE/F016352/1 Mantle circulation and the Wilson Cycle, and time allocated through the Mineral and GeoPhysics Consortium to RCUK funded HPC Hector and Archer. I.S. was supported by the Ministry of Education and Science, Russian Federation, project no. 14.Y26.31.0018. We acknowledge I. Thomas, A. Heath and I. Merrick for development of the visualisation software MantleVis used to create the output figures from TERRA. S. Hammond is acknowledged for her contributions in running ICPMS analyses at the Open University. Offers of samples were kindly received from A. Saunders for samples from DSDP Sites 86, 88 and 91; R. Tribuzio for samples from Liguria, Italy; A. Kerr for samples from Venezuela; N. Harris for samples from Nidar, India; M. Godard for samples from Semail, Oman; M. Maffione for samples from Mirdita, Albania; and IODP request 21920A for samples from DSDP Leg 14.Peer-reviewedPublisher Versio
MUSE-inspired view of the quasar Q2059-360, its Lyman α blob, and its neighborhood

The radio-quiet quasar Q2059-360 at redshift z = 3.08 is known to be close to a small Lyman α blob (LAB) and to be absorbed by a proximate damped Lyα (PDLA) system. Here, we present the Multi Unit Spectroscopic Explorer (MUSE) integral field spectroscopy follow-up of this quasi-stellar object (QSO). Our primary goal is to characterize this LAB in detail by mapping it both spatially and spectrally using the Lyα line, and by looking for high-ionization lines to constrain the emission mechanism. Combining the high sensitivity of the MUSE integral field spectrograph mounted on the Yepun telescope at ESO-VLT with the natural coronagraph provided by the PDLA, we map the LAB down to the QSO position, after robust subtraction of QSO light in the spectral domain. In addition to confirming earlier results for the small bright component of the LAB, we unveil a faint filamentary emission protruding to the south over about 80 pkpc (physical kpc); this results in a total size of about 120 pkpc. We derive the velocity field of the LAB (assuming no transfer effects) and map the Lyα line width. Upper limits are set to the flux of the N v λ1238 - 1242, C iv λ1548 - 1551, He ii λ1640, and C iii] λ1548 - 1551 lines. We have discovered two probable Lyα emitters at the same redshift as the LAB and at projected distances of 265 kpc and 207 kpc from the QSO; their Lyα luminosities might well be enhanced by the QSO radiation. We also find an emission line galaxy at z = 0.33 near the line of sight to the QSO. This LAB shares the same general characteristics as the 17 others surrounding radio-quiet QSOs presented previously. However, there are indications that it may be centered on the PDLA galaxy rather than on the QSO. Based on observations collected at the European Organisation for Astronomical Research in the Southern Hemisphere under ESO programme 60.A-9331(A).Peer reviewe
Comments on avalanche flow models based on the concept of random kinetic
  energy

In a series of papers, Bartelt and co-workers developed novel snow-avalanche
models in which \emph{random kinetic energy} $R_K$ (a.k.a.\ granular
temperature) is a key concept. The earliest models were for a single, constant
density layer, using a Voellmy model but with $R_K$-dependent friction
parameters. This was then extended to variable density, and finally a
suspension layer (powder-snow cloud) was added. The physical basis and
mathematical formulation of these models is critically reviewed here, with the
following main findings: (i) Key assumptions in the original RKE model differ
substantially from established results on dense granular flows; in particular,
the effective friction coefficient decreases to zero with velocity in the RKE
model. (ii) In the variable-density model, non-canonical interpretation of the
energy balance leads to a third-order evolution equation for the flow depth or
density, whereas the stated assumptions imply a first-order equation. (iii) The
model for the suspension layer neglects gravity and disregards well established
theoretical and experimental results on particulate gravity currents. Some
options for improving these aspects are discussed.Comment: 16 pages, 2 figur
Turning lights into flights: estimating direct and indirect rebound effects for UK households

This article is closed access.Energy efficiency improvements by households lead to rebound effects that offset the potential energy and emissions savings. Direct rebound effects result from increased demand for cheaper energy services, while indirect rebound effects result from increased demand for other goods and services that also require energy to provide. Research to date has focused upon the former, but both are important for climate change. This study estimates the combined direct and indirect rebound effects from seven measures that improve the energy efficiency of UK dwellings. The methodology is based upon estimates of the income elasticity and greenhouse gas (GHG) intensity of 16 categories of household goods and services, and allows for the embodied emissions of the energy efficiency measures themselves. Rebound effects are measured in GHG terms and relate to the adoption of these measures by an average UK household. The study finds that the rebound effects from these measures are typically in the range 5-15% and arise mostly from indirect effects. This is largely because expenditure on gas and electricity is more GHG-intensive than expenditure on other goods and services. However, the anticipated shift towards a low carbon electricity system in the UK may lead to much larger rebound effects
CED-12/ELMO, a novel member of the CrkII/Dock180/Rac pathway, is required for phagocytosis and cell migration.

The C. elegans genes ced-2, ced-5, and ced-10, and their mammalian homologs crkII, dock180, and rac1, mediate cytoskeletal rearrangements during phagocytosis of apoptotic cells and cell motility. Here, we describe an additional member of this signaling pathway, ced-12, and its mammalian homologs, elmo1 and elmo2. In C. elegans, CED-12 is required for engulfment of dying cells and for cell migrations. In mammalian cells, ELMO1 functionally cooperates with CrkII and Dock180 to promote phagocytosis and cell shape changes. CED-12/ELMO-1 binds directly to CED-5/Dock180; this evolutionarily conserved complex stimulates a Rac-GEF, leading to Rac1 activation and cytoskeletal rearrangements. These studies identify CED-12/ELMO as an upstream regulator of Rac1 that affects engulfment and cell migration from C. elegans to mammals
Jet production rates in association with W and Z Bosons in pp Collisions at \sqrt{s} = 7 TeV

Measurements of jet production rates in association with W and Z bosons for jet transverse momenta above 30 GeV are reported, using a sample of proton-proton collision events recorded by CMS at s√=7TeV , corresponding to an integrated luminosity of 36 pb − 1. The study includes the measurement of the normalized inclusive rates of jets σ(V + ≥ n jets)/σ(V), where V represents either a W or a Z. In addition, the ratio of W to Z cross sections and the W charge asymmetry as a function of the number of associated jets are measured. A test of scaling at s√=7TeV is also presented. The measurements provide a stringent test of perturbative-QCD calculations and are sensitive to the possible presence of new physics. The results are in agreement with the predictions of a simulation that uses explicit matrix element calculations for final states with jets
Linear complexity over F-q and over F-qm for linear recurring sequences

Since the F-q-linear spaces F-q(m) and F-qm are isomorphic, an m-fold multisequence S over the finite field F-q with a given characteristic polynomial f is an element of F-q[x], can be identified with a single sequence S over F-qm with characteristic polynomial f. The linear complexity of S, which will be called the generalized joint linear complexity of S, can be significantly smaller than the conventional joint linear complexity of S. We determine the expected value and the variance of the generalized joint linear complexity of a random m-fold multisequence S with given minimal polynomial. The result on the expected value generalizes a previous result oil periodic m-fold multisequences. Moreover we determine the expected drop of linear complexity of a random m-fold multisequence with given characteristic polynomial f, when one switches from conventional joint linear complexity to generalized joint linear complexity
Introducing and evaluating a Gibbs sampler for spatial Poisson regression models

In this paper we present a Gibbs sampler for a Poisson model including spatial effects. Frühwirth-Schnatter und Wagner (2004b) show that by data augmentation via the introduction of two sequences of latent variables a Poisson regression model can be transformed into a normal linear model. We show how this methodology can be extended to spatial Poisson regression models and give details of the resulting Gibbs sampler. In particular, the influence of model parameterisation and different update strategies on the mixing of the MCMC chains are discussed. The developed Gibbs samplers are analysed in two simulation studies and appliedto model the expected number of claims for policyholders of a German car insurance data set. In general, both large and small simulated spatial effects are estimated accurately by the Gibbs samplers and reasonable low autocorrelations are obtained when the data variability is rather large. However, for data with very low heterogeneity, the autocorrelations resulting from the Gibbs samplers are very high, withdrawing the computational advantage over a Metropolis Hastings independence sampler which exhibits very low autocorrelations in all settings.
Hedgehog partial agonism drives warburg-lie metabolism in muscle and brown fat

Diabetes, obesity, and cancer affect upward of 15% of the world&rsquo;s population. Interestingly, all three diseases juxtapose dysregulated intracellular signaling with altered metabolic state. Exactly which genetic factors define stable metabolic set points in vivo remains poorly understood. Here, we show that hedgehog signaling rewires cellular metabolism. We identify a cilium-dependent Smo-Ca2+-Ampk axis that triggers rapid Warburg-like metabolic reprogramming within minutes of activation and is required for proper metabolic selectivity and flexibility. We show that Smo modulators can uncouple the Smo-Ampk axis from canonical signaling and identify cyclopamine as one of a new class of &ldquo;selective partial agonists,&rdquo; capable of concomitant inhibition of canonical and activation of noncanonical hedgehog signaling. Intriguingly, activation of the Smo-Ampk axis in vivo drives robust insulin-independent glucose uptake in muscle and brown adipose tissue. These data identify multiple noncanonical endpoints that are pivotal for rational design of hedgehog modulators and provide a new therapeutic avenue for obesity and diabetes.<br /
Search for new phenomena in events with high jet multiplicity and low missing transverse momentum in proton–proton collisions at $\sqrt{s}=8$ TeV

A dedicated search is presented for new phenomena in inclusive 8- and 10-jet final states with low missing transverse momentum, with and without identification of jets originating from b quarks. The analysis is based on data from proton–proton collisions corresponding to an integrated luminosity of 19.7 fb$^{−1}$ collected with the CMS detector at the LHC at $\sqrt{s}=8$ TeV. The dominant multijet background expectations are obtained from low jet multiplicity control samples. Data agree well with the standard model background predictions, and limits are set in several benchmark models. Colorons (axigluons) with masses between 0.6 and 0.75 (up to 1.15) TeV are excluded at 95% confidence level. Similar exclusion limits for gluinos in R-parity violating supersymmetric scenarios are from 0.6 up to 1.1 TeV. These results comprise the first experimental probe of the coloron and axigluon models in multijet final states
On local and global aspects of the 1:4 resonance in the conservative
  cubic H\'enon maps

We study the 1:4 resonance for the conservative cubic H\'enon maps
$\mathbf{C}_\pm$ with positive and negative cubic term. These maps show up
different bifurcation structures both for fixed points with eigenvalues $\pm i$
and for 4-periodic orbits. While for $\mathbf{C}_-$ the 1:4 resonance unfolding
has the so-called Arnold degeneracy (the first Birkhoff twist coefficient
equals (in absolute value) to the first resonant term coefficient), the map
$\mathbf{C}_+$ has a different type of degeneracy because the resonant term can
vanish. In the last case, non-symmetric points are created and destroyed at
pitchfork bifurcations and, as a result of global bifurcations, the 1:4
resonant chain of islands rotates by $\pi/4$. For both maps several
bifurcations are detected and illustrated.Comment: 21 pages, 13 figure