6,443 research outputs found

    Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

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    We have assessed the numbers of potentially deleterious variants in the genomes of apparently healthy humans by using (1) low-coverage whole-genome sequence data from 179 individuals in the 1000 Genomes Pilot Project and (2) current predictions and databases of deleterious variants. Each individual carried 281–515 missense substitutions, 40–85 of which were homozygous, predicted to be highly damaging. They also carried 40–110 variants classified by the Human Gene Mutation Database (HGMD) as disease-causing mutations (DMs), 3–24 variants in the homozygous state, and many polymorphisms putatively associated with disease. Whereas many of these DMs are likely to represent disease-allele-annotation errors, between 0 and 8 DMs (0–1 homozygous) per individual are predicted to be highly damaging, and some of them provide information of medical relevance. These analyses emphasize the need for improved annotation of disease alleles both in mutation databases and in the primary literature; some HGMD mutation data have been recategorized on the basis of the present findings, an iterative process that is both necessary and ongoing. Our estimates of deleterious-allele numbers are likely to be subject to both overcounting and undercounting. However, our current best mean estimates of ∼400 damaging variants and ∼2 bona fide disease mutations per individual are likely to increase rather than decrease as sequencing studies ascertain rare variants more effectively and as additional disease alleles are discovered

    Benchmark performance of low-cost Sb2Se3 photocathodes for unassisted solar overall water splitting

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    Determining cost-effective semiconductors exhibiting desirable properties for commercial photoelectrochemical water splitting remains a challenge. Herein, we report a Sb2Se3 semiconductor that satisfies most requirements for an ideal high-performance photoelectrode, including a small band gap and favourable cost, optoelectronic properties, processability, and photocorrosion stability. Strong anisotropy, a major issue for Sb2Se3, is resolved by suppressing growth kinetics via close space sublimation to obtain high-quality compact thin films with favourable crystallographic orientation. The Sb2Se3 photocathode exhibits a high photocurrent density of almost 30mAcm(-2) at 0V against the reversible hydrogen electrode, the highest value so far. We demonstrate unassisted solar overall water splitting by combining the optimised Sb2Se3 photocathode with a BiVO4 photoanode, achieving a solar-to-hydrogen efficiency of 1.5% with stability over 10h under simulated 1 sun conditions employing a broad range of solar fluxes. Low-cost Sb2Se3 can thus be an attractive breakthrough material for commercial solar fuel production. While photoelectrochemical water splitting offers an integrated means to convert sunlight to a renewable fuel, cost-effective light-absorbers are rare. Here, authors report Sb2Se3 photocathodes for high-performance photoelectrochemical water splitting devices

    Numerical modeling of collisional dynamics of Sr in an optical dipole trap

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    We describe a model of inelastic and elastic collisional dynamics of atoms in an optical dipole trap that utilizes numerical evaluation of statistical mechanical quantities and numerical solution of equations for the evolution of number and temperature of trapped atoms. It can be used for traps that possess little spatial symmetry and when the ratio of trap depth to sample temperature is relatively small. We compare simulation results with experiments on Sr88 and Sr84, which have well-characterized collisional properties

    Risk factors for breast cancer in young women by oestrogen receptor and progesterone receptor status

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    We used data from 765 cases and 564 controls in the population-based Australian Breast Cancer Family Study to investigate whether, in women under the age of 40, the profile of risk factors differed between breast cancer subtypes defined by joint oestrogen and progesterone receptor status. As hypothesised, no significant differences were found

    A Gauge Invariant Unitary Theory for Pion Photoproduction

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    A covariant, unitary and gauge invariant theory for pion photoproduction on a single nucleon is presented. To achieve gauge invariance at the operator level one needs to include both the πN\pi N and γπN\gamma\pi N thresholds. The final amplitude can be written in terms of a distorted wave in the final πN\pi N channel provided one includes additional diagrams to the standard Born term in which the photon is coupled to the final state pion and nucleon. These additional diagrams are required in order to satisfy gauge invariance.Comment: 4 pages, LaTeX, 1 figure as a separate uuencoded compressed tar fil

    Single Spin Asymmetries of Inclusive Hadrons Produced in Electron Scattering from a Transversely Polarized 3^3He Target

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    We report the first measurement of target single-spin asymmetries (AN_N) in the inclusive hadron production reaction, e e~+ 3Heh+X~^3\text{He}^{\uparrow}\rightarrow h+X, using a transversely polarized 3^3He target. The experiment was conducted at Jefferson Lab in Hall A using a 5.9-GeV electron beam. Three types of hadrons (π±\pi^{\pm}, K±\text{K}^{\pm} and proton) were detected in the transverse hadron momentum range 0.54 <pT<<p_T< 0.74 GeV/c. The range of xFx_F for pions was -0.29 <xF<<x_F< -0.23 and for kaons -0.25 <xF<<x_F<-0.18. The observed asymmetry strongly depends on the type of hadron. A positive asymmetry is observed for π+\pi^+ and K+\text{K}^+. A negative asymmetry is observed for π\pi^{-}. The magnitudes of the asymmetries follow Aπ<Aπ+<AK+|A^{\pi^-}| < |A^{\pi^+}| < |A^{K^+}|. The K^{-} and proton asymmetries are consistent with zero within the experimental uncertainties. The π+\pi^{+} and π\pi^{-} asymmetries measured for the 3^3He target and extracted for neutrons are opposite in sign with a small increase observed as a function of pTp_T.Comment: Updated version, submitted to Phys. Rev.

    Doping the holographic Mott insulator

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    Mott insulators form because of strong electron repulsions, being at the heart of strongly correlated electron physics. Conventionally these are understood as classical "traffic jams" of electrons described by a short-ranged entangled product ground state. Exploiting the holographic duality, which maps the physics of densely entangled matter onto gravitational black hole physics, we show how Mott-insulators can be constructed departing from entangled non-Fermi liquid metallic states, such as the strange metals found in cuprate superconductors. These "entangled Mott insulators" have traits in common with the "classical" Mott insulators, such as the formation of Mott gap in the optical conductivity, super-exchange-like interactions, and form "stripes" when doped. They also exhibit new properties: the ordering wave vectors are detached from the number of electrons in the unit cell, and the DC resistivity diverges algebraically instead of exponentially as function of temperature. These results may shed light on the mysterious ordering phenomena observed in underdoped cuprates.Comment: 27 pages, 9 figures. Accepted in Nature Physic

    DA white dwarfs from the LSS-GAC survey DR1: the preliminary luminosity and mass functions and formation rate

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    Modern large-scale surveys have allowed the identification of large numbers of white dwarfs. However, these surveys are subject to complicated target selection algorithms, which make it almost impossible to quantify to what extent the observational biases affect the observed populations. The LAMOST (Large Sky Area Multi-Object Fiber Spectroscopic Telescope) Spectroscopic Survey of the Galactic anti-center (LSS-GAC) follows a well-defined set of criteria for selecting targets for observations. This advantage over previous surveys has been fully exploited here to identify a small yet well-characterised magnitude-limited sample of hydrogen-rich (DA) white dwarfs. We derive preliminary LSS-GAC DA white dwarf luminosity and mass functions. The space density and average formation rate of DA white dwarfs we derive are 0.83+/-0.16 x 10^{-3} pc^{-3} and 5.42 +/- 0.08 x 10^{-13} pc^{-3} yr^{-1}, respectively. Additionally, using an existing Monte Carlo population synthesis code we simulate the population of single DA white dwarfs in the Galactic anti-center, under various assumptions. The synthetic populations are passed through the LSS-GAC selection criteria, taking into account all possible observational biases. This allows us to perform a meaningful comparison of the observed and simulated distributions. We find that the LSS-GAC set of criteria is highly efficient in selecting white dwarfs for spectroscopic observations (80-85 per cent) and that, overall, our simulations reproduce well the observed luminosity function. However, they fail at reproducing an excess of massive white dwarfs present in the observed mass function. A plausible explanation for this is that a sizable fraction of massive white dwarfs in the Galaxy are the product of white dwarf-white dwarf mergers.Comment: 23 pages, 14 figures and 5 tables. Accepted for publication by MNRA
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