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3.
  • Loza, M. J., et al. (author)
  • Validated and longitudinally stable asthma phenotypes based on cluster analysis of the ADEPT study
  • 2016
  • In: Respiratory Research. - : Springer Nature. - 1465-9921 .- 1465-993X. ; 17:1
  • Journal article (peer-reviewed)abstract
    • Background: Asthma is a disease of varying severity and differing disease mechanisms. To date, studies aimed at stratifying asthma into clinically useful phenotypes have produced a number of phenotypes that have yet to be assessed for stability and to be validated in independent cohorts. The aim of this study was to define and validate, for the first time ever, clinically driven asthma phenotypes using two independent, severe asthma cohorts: ADEPT and U-BIOPRED. Methods: Fuzzy partition-around-medoid clustering was performed on pre-specified data from the ADEPT participants (n = 156) and independently on data from a subset of U-BIOPRED asthma participants (n = 82) for whom the same variables were available. Models for cluster classification probabilities were derived and applied to the 12-month longitudinal ADEPT data and to a larger subset of the U-BIOPRED asthma dataset (n = 397). High and low type-2 inflammation phenotypes were defined as high or low Th2 activity, indicated by endobronchial biopsies gene expression changes downstream of IL-4 or IL-13. Results: Four phenotypes were identified in the ADEPT (training) cohort, with distinct clinical and biomarker profiles. Phenotype 1 was "mild, good lung function, early onset", with a low-inflammatory, predominantly Type-2, phenotype. Phenotype 2 had a "moderate, hyper-responsive, eosinophilic" phenotype, with moderate asthma control, mild airflow obstruction and predominant Type-2 inflammation. Phenotype 3 had a "mixed severity, predominantly fixed obstructive, non-eosinophilic and neutrophilic" phenotype, with moderate asthma control and low Type-2 inflammation. Phenotype 4 had a "severe uncontrolled, severe reversible obstruction, mixed granulocytic" phenotype, with moderate Type-2 inflammation. These phenotypes had good longitudinal stability in the ADEPT cohort. They were reproduced and demonstrated high classification probability in two subsets of the U-BIOPRED asthma cohort. Conclusions: Focusing on the biology of the four clinical independently-validated easy-to-assess ADEPT asthma phenotypes will help understanding the unmet need and will aid in developing tailored therapies. Trial registration:NCT01274507(ADEPT), registered October 28, 2010 and NCT01982162(U-BIOPRED), registered October 30, 2013.
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  • Aghanim, N., et al. (author)
  • Planck 2015 results XI. CMB power spectra, likelihoods, and robustness of parameters
  • 2016
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 594
  • Journal article (peer-reviewed)abstract
    • This paper presents the Planck 2015 likelihoods, statistical descriptions of the 2-point correlation functions of the cosmic microwave background (CMB) temperature and polarization fluctuations that account for relevant uncertainties, both instrumental and astrophysical in nature. They are based on the same hybrid approach used for the previous release, i.e., a pixel-based likelihood at low multipoles (l < 30) and a Gaussian approximation to the distribution of cross-power spectra at higher multipoles. The main improvements are the use of more and better processed data and of Planck polarization information, along with more detailed models of foregrounds and instrumental uncertainties. The increased redundancy brought by more than doubling the amount of data analysed enables further consistency checks and enhanced immunity to systematic effects. It also improves the constraining power of Planck, in particular with regard to small-scale foreground properties. Progress in the modelling of foreground emission enables the retention of a larger fraction of the sky to determine the properties of the CMB, which also contributes to the enhanced precision of the spectra. Improvements in data processing and instrumental modelling further reduce uncertainties. Extensive tests establish the robustness and accuracy of the likelihood results, from temperature alone, from polarization alone, and from their combination. For temperature, we also perform a full likelihood analysis of realistic end-to-end simulations of the instrumental response to the sky, which were fed into the actual data processing pipeline; this does not reveal biases from residual low-level instrumental systematics. Even with the increase in precision and robustness, the Lambda CDM cosmological model continues to offer a very good fit to the Planck data. The slope of the primordial scalar fluctuations, n(s), is confirmed smaller than unity at more than 5 sigma from Planck alone. We further validate the robustness of the likelihood results against specific extensions to the baseline cosmology, which are particularly sensitive to data at high multipoles. For instance, the effective number of neutrino species remains compatible with the canonical value of 3.046. For this first detailed analysis of Planck polarization spectra, we concentrate at high multipoles on the E modes, leaving the analysis of the weaker B modes to future work. At low multipoles we use temperature maps at all Planck frequencies along with a subset of polarization data. These data take advantage of Planck's wide frequency coverage to improve the separation of CMB and foreground emission. Within the baseline Lambda CDM cosmology this requires tau = 0.078 +/- 0.019 for the reionization optical depth, which is significantly lower than estimates without the use of high-frequency data for explicit monitoring of dust emission. At high multipoles we detect residual systematic errors in E polarization, typically at the mu K-2 level; we therefore choose to retain temperature information alone for high multipoles as the recommended baseline, in particular for testing non-minimal models. Nevertheless, the high-multipole polarization spectra from Planck are already good enough to enable a separate high-precision determination of the parameters of the Lambda CDM model, showing consistency with those established independently from temperature information alone.
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5.
  • Delabrouille, J., et al. (author)
  • Exploring cosmic origins with CORE : Survey requirements and mission design
  • 2018
  • In: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :4
  • Journal article (peer-reviewed)abstract
    • Future observations of cosmic microwave background (CMB) polarisation have the potential to answer some of the most fundamental questions of modern physics and cosmology, including: what physical process gave birth to the Universe we see today? What are the dark matter and dark energy that seem to constitute 95% of the energy density of the Universe? Do we need extensions to the standard model of particle physics and fundamental interactions? Is the ACDM cosmological scenario correct, or are we missing an essential piece of the puzzle? In this paper, we list the requirements for a future CMB polarisation survey addressing these scientific objectives, and discuss the design drivers of the CORE space mission proposed to ESA in answer to the M5 call for a medium-sized mission. The rationale and options, and the methodologies used to assess the mission's performance, are of interest to other future CMB mission design studies. CORE has 19 frequency channels, distributed over a broad frequency range, spanning the 60-600 GHz interval, to control astrophysical foreground emission. The angular resolution ranges from 2' to 18', and the aggregate CMB sensitivity is about 2 mu K.arcmin. The observations are made with a single integrated focal-plane instrument, consisting of an array of 2100 cryogenically-cooled, linearly-polarised detectors at the focus of a 1.2-m aperture cross-Dragone telescope. The mission is designed to minimise all sources of systematic effects, which must be controlled so that no more than 10(-4) of the intensity leaks into polarisation maps, and no more than about 1% of E-type polarisation leaks into B-type modes. CORE observes the sky from a large Lissajous orbit around the Sun-Earth L2 point on an orbit that offers stable observing conditions and avoids contamination from sidelobe pick-up of stray radiation originating from the Sun, Earth, and Moon. The entire sky is observed repeatedly during four years of continuous scanning, with a combination of three rotations of the spacecraft over different timescales. With about 50% of the sky covered every few days, this scan strategy provides the mitigation of systematic effects and the internal redundancy that are needed to convincingly extract the primordial B-mode signal on large angular scales, and check with adequate sensitivity the consistency of the observations in several independent data subsets. CORE is designed as a near-ultimate CMB polarisation mission which, for optimal complementarity with ground-based observations, will perform the observations that are known to be essential to CMB polarisation science and cannot be obtained by any other means than a dedicated space mission. It will provide well-characterised, highly-redundant multi-frequency observations of polarisation at all the scales where foreground emission and cosmic variance dominate the final uncertainty for obtaining precision CMB science, as well as 2' angular resolution maps of high-frequency foreground emission in the 300-600 GHz frequency range, essential for complementarity with future ground-based observations with large telescopes that can observe the CMB with the same beamsize.
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6.
  • Aghanim, N., et al. (author)
  • Planck 2018 results I. Overview and the cosmological legacy of Planck
  • 2020
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 641
  • Journal article (peer-reviewed)abstract
    • The European Space Agency's Planck satellite, which was dedicated to studying the early Universe and its subsequent evolution, was launched on 14 May 2009. It scanned the microwave and submillimetre sky continuously between 12 August 2009 and 23 October 2013, producing deep, high-resolution, all-sky maps in nine frequency bands from 30 to 857 GHz. This paper presents the cosmological legacy of Planck, which currently provides our strongest constraints on the parameters of the standard cosmological model and some of the tightest limits available on deviations from that model. The 6-parameter Lambda CDM model continues to provide an excellent fit to the cosmic microwave background data at high and low redshift, describing the cosmological information in over a billion map pixels with just six parameters. With 18 peaks in the temperature and polarization angular power spectra constrained well, Planck measures five of the six parameters to better than 1% (simultaneously), with the best-determined parameter (theta (*)) now known to 0.03%. We describe the multi-component sky as seen by Planck, the success of the Lambda CDM model, and the connection to lower-redshift probes of structure formation. We also give a comprehensive summary of the major changes introduced in this 2018 release. The Planck data, alone and in combination with other probes, provide stringent constraints on our models of the early Universe and the large-scale structure within which all astrophysical objects form and evolve. We discuss some lessons learned from the Planck mission, and highlight areas ripe for further experimental advances.
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7.
  • Aghanim, N., et al. (author)
  • Planck intermediate results XLVI. Reduction of large-scale systematic effects in HFI polarization maps and estimation of the reionization optical depth
  • 2016
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 596
  • Journal article (peer-reviewed)abstract
    • This paper describes the identification, modelling, and removal of previously unexplained systematic effects in the polarization data of the Planck High Frequency Instrument (HFI) on large angular scales, including new mapmaking and calibration procedures, new and more complete end-to-end simulations, and a set of robust internal consistency checks on the resulting maps. These maps, at 100, 143, 217, and 353 GHz, are early versions of those that will be released in final form later in 2016. The improvements allow us to determine the cosmic reionization optical depth tau using, for the first time, the low-multipole EE data from HFI, reducing significantly the central value and uncertainty, and hence the upper limit. Two different likelihood procedures are used to constrain tau from two estimators of the CMB E- and B-mode angular power spectra at 100 and 143 GHz, after debiasing the spectra from a small remaining systematic contamination. These all give fully consistent results. A further consistency test is performed using cross-correlations derived from the Low Frequency Instrument maps of the Planck 2015 data release and the new HFI data. For this purpose, end-to-end analyses of systematic effects from the two instruments are used to demonstrate the near independence of their dominant systematic error residuals. The tightest result comes from the HFI-based tau posterior distribution using the maximum likelihood power spectrum estimator from EE data only, giving a value 0.055 +/- 0.009. In a companion paper these results are discussed in the context of the best-fit Planck Lambda CDM cosmological model and recent models of reionization.
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8.
  • Adam, R., et al. (author)
  • Planck intermediate results XLVII. Planck constraints on reionization history
  • 2016
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 596
  • Journal article (peer-reviewed)abstract
    • We investigate constraints on cosmic reionization extracted from the Planck cosmic microwave background (CMB) data. We combine the Planck CMB anisotropy data in temperature with the low-multipole polarization data to fit Lambda CDM models with various parameterizations of the reionization history. We obtain a Thomson optical depth tau = 0.058 +/- 0.012 for the commonly adopted instantaneous reionization model. This confirms, with data solely from CMB anisotropies, the low value suggested by combining Planck 2015 results with other data sets, and also reduces the uncertainties. We reconstruct the history of the ionization fraction using either a symmetric or an asymmetric model for the transition between the neutral and ionized phases. To determine better constraints on the duration of the reionization process, we also make use of measurements of the amplitude of the kinetic Sunyaev-Zeldovich (kSZ) effect using additional information from the high-resolution Atacama Cosmology Telescope and South Pole Telescope experiments. The average redshift at which reionization occurs is found to lie between z = 7.8 and 8.8, depending on the model of reionization adopted. Using kSZ constraints and a redshift-symmetric reionization model, we find an upper limit to the width of the reionization period of Delta z < 2.8. In all cases, we find that the Universe is ionized at less than the 10% level at redshifts above z similar or equal to 10. This suggests that an early onset of reionization is strongly disfavoured by the Planck data. We show that this result also reduces the tension between CMB-based analyses and constraints from other astrophysical sources.
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9.
  • Aghanim, N., et al. (author)
  • Planck 2018 results XII. Galactic astrophysics using polarized dust emission
  • 2020
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 641
  • Journal article (peer-reviewed)abstract
    • Observations of the submillimetre emission from Galactic dust, in both total intensity I and polarization, have received tremendous interest thanks to the Planck full-sky maps. In this paper we make use of such full-sky maps of dust polarized emission produced from the third public release of Planck data. As the basis for expanding on astrophysical studies of the polarized thermal emission from Galactic dust, we present full-sky maps of the dust polarization fraction p, polarization angle psi, and dispersion function of polarization angles ?. The joint distribution (one-point statistics) of p and N-H confirms that the mean and maximum polarization fractions decrease with increasing N-H. The uncertainty on the maximum observed polarization fraction, (max) = 22.0(-1.4)(+3.5) p max = 22 . 0 - 1.4 + 3.5 % at 353 GHz and 80 ' resolution, is dominated by the uncertainty on the Galactic emission zero level in total intensity, in particular towards diffuse lines of sight at high Galactic latitudes. Furthermore, the inverse behaviour between p and ? found earlier is seen to be present at high latitudes. This follows the ?proportional to p(-1) relationship expected from models of the polarized sky (including numerical simulations of magnetohydrodynamical turbulence) that include effects from only the topology of the turbulent magnetic field, but otherwise have uniform alignment and dust properties. Thus, the statistical properties of p, psi, and ? for the most part reflect the structure of the Galactic magnetic field. Nevertheless, we search for potential signatures of varying grain alignment and dust properties. First, we analyse the product map ?xp, looking for residual trends. While the polarization fraction p decreases by a factor of 3-4 between N-H=10(20) cm(-2) and N-H=2x10(22) cm(-2), out of the Galactic plane, this product ?xp only decreases by about 25%. Because ? is independent of the grain alignment efficiency, this demonstrates that the systematic decrease in p with N-H is determined mostly by the magnetic-field structure and not by a drop in grain alignment. This systematic trend is observed both in the diffuse interstellar medium (ISM) and in molecular clouds of the Gould Belt. Second, we look for a dependence of polarization properties on the dust temperature, as we would expect from the radiative alignment torque (RAT) theory. We find no systematic trend of ?xp with the dust temperature T-d, whether in the diffuse ISM or in the molecular clouds of the Gould Belt. In the diffuse ISM, lines of sight with high polarization fraction p and low polarization angle dispersion ? tend, on the contrary, to have colder dust than lines of sight with low p and high ?. We also compare the Planck thermal dust polarization with starlight polarization data in the visible at high Galactic latitudes. The agreement in polarization angles is remarkable, and is consistent with what we expect from the noise and the observed dispersion of polarization angles in the visible on the scale of the Planck beam. The two polarization emission-to-extinction ratios, R-P/p and R-S/V, which primarily characterize dust optical properties, have only a weak dependence on the column density, and converge towards the values previously determined for translucent lines of sight. We also determine an upper limit for the polarization fraction in extinction, p(V)/E(B-V), of 13% at high Galactic latitude, compatible with the polarization fraction p approximate to 20% observed at 353 GHz. Taken together, these results provide strong constraints for models of Galactic dust in diffuse gas.
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  • Aghanim, N., et al. (author)
  • Planck intermediate results L. Evidence of spatial variation of the polarized thermal dust spectral energy distribution and implications for CMB B-mode analysis
  • 2017
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 599
  • Journal article (peer-reviewed)abstract
    • The characterization of the Galactic foregrounds has been shown to be the main obstacle in the challenging quest to detect primordial B-modes in the polarized microwave sky. We make use of the Planck-HFI 2015 data release at high frequencies to place new constraints on the properties of the polarized thermal dust emission at high Galactic latitudes. Here, we specifically study the spatial variability of the dust polarized spectral energy distribution (SED), and its potential impact on the determination of the tensor-to-scalar ratio, r. We use the correlation ratio of the CBB `angular power spectra between the 217 and 353 GHz channels as a tracer of these potential variations, computed on different high Galactic latitude regions, ranging from 80% to 20% of the sky. The new insight from Planck data is a departure of the correlation ratio from unity that cannot be attributed to a spurious decorrelation due to the cosmic microwave background, instrumental noise, or instrumental systematics. The effect is marginally detected on each region, but the statistical combination of all the regions gives more than 99% confidence for this variation in polarized dust properties. In addition, we show that the decorrelation increases when there is a decrease in the mean column density of the region of the sky being considered, and we propose a simple power-law empirical model for this dependence, which matches what is seen in the Planck data. We explore the effect that this measured decorrelation has on simulations of the BICEP2-Keck Array/Planck analysis and show that the 2015 constraints from these data still allow a decorrelation between the dust at 150 and 353 GHz that is compatible with our measured value. Finally, using simplified models, we show that either spatial variation of the dust SED or of the dust polarization angle are able to produce decorrelations between 217 and 353 GHz data similar to the values we observe in the data.
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11.
  • Aghanim, N., et al. (author)
  • Planck intermediate results LI. Features in the cosmic microwave background temperature power spectrum and shifts in cosmological parameters
  • 2017
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 607
  • Journal article (peer-reviewed)abstract
    • The six parameters of the standard Lambda CDM model have best-fit values derived from the Planck temperature power spectrum that are shifted somewhat from the best-fit values derived from WMAP data. These shifts are driven by features in the Planck temperature power spectrum at angular scales that had never before been measured to cosmic-variance level precision. We have investigated these shifts to determine whether they are within the range of expectation and to understand their origin in the data. Taking our parameter set to be the optical depth of the reionized intergalactic medium tau, the baryon density omega(b), the matter density omega(m), the angular size of the sound horizon theta(*), the spectral index of the primordial power spectrum, n(s), and A(s)e(-2 pi) (where As is the amplitude of the primordial power spectrum), we have examined the change in best-fit values between a WMAP-like large angular-scale data set (with multipole moment l < 800 in the Planck temperature power spectrum) and an all angular-scale data set (l < 2500 Planck temperature power spectrum), each with a prior on tau of 0.07 +/- 0.02. We find that the shifts, in units of the 1 sigma expected dispersion for each parameter, are {Delta tau, Delta A(s)e(-2 tau), Delta n(s), Delta omega(m), Delta omega(b), Delta theta(*)} = {-1.7, -2.2, 1.2, 2.0, 1.1, 0.9}, with a chi(2) value of 8.0. We find that this chi(2) value is exceeded in 15% of our simulated data sets, and that a parameter deviates by more than 2.2 sigma in 9% of simulated data sets, meaning that the shifts are not unusually large. Comparing l < 800 instead to l > 800, or splitting at a different multipole, yields similar results. We examined the l < 800 model residuals in the l > 800 power spectrum data and find that the features there that drive these shifts are a set of oscillations across a broad range of angular scales. Although they partly appear similar to the effects of enhanced gravitational lensing, the shifts in Lambda CDM parameters that arise in response to these features correspond to model spectrum changes that are predominantly due to non-lensing effects; the only exception is tau, which, at fixed A(s)e(-2 tau), affects the l > 800 temperature power spectrum solely through the associated change in As and the impact of that on the lensing potential power spectrum. We also ask, what is it about the power spectrum at l < 800 that leads to somewhat different best-fit parameters than come from the full l range? We find that if we discard the data at l < 30, where there is a roughly 2 sigma downward fluctuation in power relative to the model that best fits the full l range, the l < 800 best-fit parameters shift significantly towards the l < 2500 best-fit parameters. In contrast, including l < 30, this previously noted low-l deficit drives ns up and impacts parameters correlated with ns, such as omega(m) and H-0. As expected, the l < 30 data have a much greater impact on the l < 800 best fit than on the l < 2500 best fit. So although the shifts are not very significant, we find that they can be understood through the combined effects of an oscillatory-like set of high-l residuals and the deficit in low-l power, excursions consistent with sample variance that happen to map onto changes in cosmological parameters. Finally, we examine agreement between Planck TT data and two other CMB data sets, namely the Planck lensing reconstruction and the TT power spectrum measured by the South Pole Telescope, again finding a lack of convincing evidence of any significant deviations in parameters, suggesting that current CMB data sets give an internally consistent picture of the Lambda CDM model.
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12.
  • Akrami, Y., et al. (author)
  • Planck 2018 results X. Constraints on inflation
  • 2020
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 641
  • Journal article (peer-reviewed)abstract
    • We report on the implications for cosmic inflation of the 2018 release of the Planck cosmic microwave background (CMB) anisotropy measurements. The results are fully consistent with those reported using the data from the two previous Planck cosmological releases, but have smaller uncertainties thanks to improvements in the characterization of polarization at low and high multipoles. Planck temperature, polarization, and lensing data determine the spectral index of scalar perturbations to be n(s)=0.9649 +/- 0.0042 at 68% CL. We find no evidence for a scale dependence of n(s), either as a running or as a running of the running. The Universe is found to be consistent with spatial flatness with a precision of 0.4% at 95% CL by combining Planck with a compilation of baryon acoustic oscillation data. The Planck 95% CL upper limit on the tensor-to-scalar ratio, r(0.002)< 0.10, is further tightened by combining with the BICEP2/Keck Array BK15 data to obtain r(0.002)< 0.056. In the framework of standard single-field inflationary models with Einstein gravity, these results imply that: (a) the predictions of slow-roll models with a concave potential, V(phi) < 0, are increasingly favoured by the data; and (b) based on two different methods for reconstructing the inflaton potential, we find no evidence for dynamics beyond slow roll. Three different methods for the non-parametric reconstruction of the primordial power spectrum consistently confirm a pure power law in the range of comoving scales 0.005 Mpc(-1)k less than or similar to 0.2 Mpc(-1). A complementary analysis also finds no evidence for theoretically motivated parameterized features in the Planck power spectra. For the case of oscillatory features that are logarithmic or linear in k, this result is further strengthened by a new combined analysis including the Planck bispectrum data. The new Planck polarization data provide a stringent test of the adiabaticity of the initial conditions for the cosmological fluctuations. In correlated, mixed adiabatic and isocurvature models, the non-adiabatic contribution to the observed CMB temperature variance is constrained to 1.3%, 1.7%, and 1.7% at 95% CL for cold dark matter, neutrino density, and neutrino velocity, respectively. Planck power spectra plus lensing set constraints on the amplitude of compensated cold dark matter-baryon isocurvature perturbations that are consistent with current complementary measurements. The polarization data also provide improved constraints on inflationary models that predict a small statistically anisotropic quadupolar modulation of the primordial fluctuations. However, the polarization data do not support physical models for a scale-dependent dipolar modulation. All these findings support the key predictions of the standard single-field inflationary models, which will be further tested by future cosmological observations.
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13.
  • Akrami, Y., et al. (author)
  • Planck intermediate results LII. Planet flux densities
  • 2017
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 607
  • Journal article (peer-reviewed)abstract
    • Measurements of flux density are described for five planets, Mars, Jupiter, Saturn, Uranus, and Neptune, across the six Planck High Frequency Instrument frequency bands (100-857 GHz) and these are then compared with models and existing data. In our analysis, we have also included estimates of the brightness of Jupiter and Saturn at the three frequencies of the Planck Low Frequency Instrument (30, 44, and 70 GHz). The results provide constraints on the intrinsic brightness and the brightness time-variability of these planets. The majority of the planet flux density estimates are limited by systematic errors, but still yield better than 1% measurements in many cases. Applying data from Planck HFI, the Wilkinson Microwave Anisotropy Probe (WMAP), and the Atacama Cosmology Telescope (ACT) to a model that incorporates contributions from Saturn's rings to the planet's total flux density suggests a best fit value for the spectral index of Saturn's ring system of beta(ring) = 2 : 30 +/- 0 : 03 over the 30-1000 GHz frequency range. Estimates of the polarization amplitude of the planets have also been made in the four bands that have polarization-sensitive detectors (100-353 GHz); this analysis provides a 95% confidence level upper limit on Mars's polarization of 1.8, 1.7, 1.2, and 1.7% at 100, 143, 217, and 353 GHz, respectively. The average ratio between the Planck-HFI measurements and the adopted model predictions for all five planets (excluding Jupiter observations for 353 GHz) is 1.004, 1.002, 1.021, and 1.033 for 100, 143, 217, and 353 GHz, respectively. Model predictions for planet thermodynamic temperatures are therefore consistent with the absolute calibration of Planck-HFI detectors at about the three-percent level. We compare our measurements with published results from recent cosmic microwave background experiments. In particular, we observe that the flux densities measured by Planck HFI and WMAP agree to within 2%. These results allow experiments operating in the mm-wavelength range to cross-calibrate against Planck and improve models of radiative transport used in planetary science.
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14.
  • De Zotti, G., et al. (author)
  • Exploring cosmic origins with CORE : Extragalactic sources in cosmic microwave background maps
  • 2018
  • In: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :4
  • Journal article (peer-reviewed)abstract
    • We discuss the potential of a next generation space-borne Cosmic Microwave Background (CMB) experiment for studies of extragalactic sources. Our analysis has particular bearing on the definition of the future space project, CORE, that has been submitted in response to ESA's call for a Medium-size mission opportunity as the successor of the Planck satellite. Even though the effective telescope size will be somewhat smaller than that of Planck, CORE will have a considerably better angular resolution at its highest frequencies, since, in contrast with Planck, it will be diffraction limited at all frequencies. The improved resolution implies a considerable decrease of the source confusion, i.e. substantially fainter detection limits. In particular, CORE will detect thousands of strongly lensed high-z galaxies distributed over the full sky. The extreme brightness of these galaxies will make it possible to study them, via follow-up observations, in extraordinary detail. Also, the CORE resolution matches the typical sizes of high-z galaxy proto-clusters much better than the Planck resolution, resulting in a much higher detection efficiency; these objects will be caught in an evolutionary phase beyond the reach of surveys in other wavebands. Furthermore, CORE will provide unique information on the evolution of the star formation in virialized groups and clusters of galaxies up to the highest possible redshifts. Finally, thanks to its very high sensitivity, CORE will detect the polarized emission of thousands of radio sources and, for the first time, of dusty galaxies, at mm and sub-mm wavelengths, respectively.
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15.
  • Di Valentino, E., et al. (author)
  • Exploring cosmic origins with CORE : Cosmological parameters
  • 2018
  • In: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :4
  • Journal article (peer-reviewed)abstract
    • We forecast the main cosmological parameter constraints achievable with the CORE space mission which is dedicated to mapping the polarisation of the Cosmic Microwave Background (CMB). CORE was recently submitted in response to ESA's fifth call for medium-sized mission proposals (M5). Here we report the results from our pre-submission study of the impact of various instrumental options, in particular the telescope size and sensitivity level, and review the great, transformative potential of the mission as proposed. Specifically, we assess the impact on a broad range of fundamental parameters of our Universe as a function of the expected CMB characteristics, with other papers in the series focusing on controlling astrophysical and instrumental residual systematics. In this paper, we assume that only a few central CORE frequency channels are usable for our purpose, all others being devoted to the cleaning of astrophysical contaminants. On the theoretical side, we assume ACDM as our general framework and quantify the improvement provided by CORE over the current constraints from the Planck 2015 release. We also study the joint sensitivity of CORE and of future Baryon Acoustic Oscillation and Large Scale Structure experiments like DESI and Euclid. Specific constraints on the physics of inflation are presented in another paper of the series. In addition to the six parameters of the base ACDM, which describe the matter content of a spatially flat universe with adiabatic and scalar primordial fluctuations from inflation, we derive the precision achievable on parameters like those describing curvature, neutrino physics, extra light relics, primordial helium abundance, dark matter annihilation, recombination physics, variation of fundamental constants, dark energy, modified gravity, reionization and cosmic birefringence. In addition to assessing the improvement on the precision of individual parameters, we also forecast the post-CORE overall reduction of the allowed parameter space with figures of merit for various models increasing by as much as similar to 10(7) as compared to Planck 2015, and 10(5) with respect to Planck 2015 + future BAO measurements.
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16.
  • Finelli, F., et al. (author)
  • Exploring cosmic origins with CORE : Inflation
  • 2018
  • In: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; 2018:4
  • Journal article (peer-reviewed)abstract
    • We forecast the scientific capabilities to improve our understanding of cosmic inflation of CORE, a proposed CMB space satellite submitted in response to the ESA fifth call for a medium-size mission opportunity. The CORE satellite will map the CMB anisotropies in temperature and polarization in 19 frequency channels spanning the range 60-600 GHz. CORE will have an aggregate noise sensitivity of 1.7 mu K.arcmin and an angular resolution of 5' at 200 GHz. We explore the impact of telescope size and noise sensitivity on the inflation science return by making forecasts for several instrumental configurations. This study assumes that the lower and higher frequency channels suffice to remove foreground contaminations and complements other related studies of component separation and systematic effects, which will be reported in other papers of the series Exploring Cosmic Origins with CORE. We forecast the capability to determine key inflationary parameters, to lower the detection limit for the tensor-to-scalar ratio down to the 10(-3) level, to chart the landscape of single field slow-roll inflationary models, to constrain the epoch of reheating, thus connecting inflation to the standard radiation-matter dominated Big Bang era, to reconstruct the primordial power spectrum, to constrain the contribution from isocurvature perturbations to the 10(-3) level, to improve constraints on the cosmic string tension to a level below the presumptive GUT scale, and to improve the current measurements of primordial non-Gaussianities down to the f(NL)(local) < 1 level. For all the models explored, CORE alone will improve significantly on the present constraints on the physics of inflation. Its capabilities will be further enhanced by combining with complementary future cosmological observations.
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17.
  • Aghanim, N., et al. (author)
  • Planck 2018 results III. High Frequency Instrument data processing and frequency maps
  • 2020
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 641
  • Journal article (peer-reviewed)abstract
    • This paper presents the High Frequency Instrument (HFI) data processing procedures for the Planck 2018 release. Major improvements in mapmaking have been achieved since the previous Planck 2015 release, many of which were used and described already in an intermediate paper dedicated to the Planck polarized data at low multipoles. These improvements enabled the first significant measurement of the reionization optical depth parameter using Planck-HFI data. This paper presents an extensive analysis of systematic effects, including the use of end-to-end simulations to facilitate their removal and characterize the residuals. The polarized data, which presented a number of known problems in the 2015 Planck release, are very significantly improved, especially the leakage from intensity to polarization. Calibration, based on the cosmic microwave background (CMB) dipole, is now extremely accurate and in the frequency range 100-353 GHz reduces intensity-to-polarization leakage caused by calibration mismatch. The Solar dipole direction has been determined in the three lowest HFI frequency channels to within one arc minute, and its amplitude has an absolute uncertainty smaller than 0.35 mu K, an accuracy of order 10(-4). This is a major legacy from the Planck HFI for future CMB experiments. The removal of bandpass leakage has been improved for the main high-frequency foregrounds by extracting the bandpass-mismatch coefficients for each detector as part of the mapmaking process; these values in turn improve the intensity maps. This is a major change in the philosophy of frequency maps, which are now computed from single detector data, all adjusted to the same average bandpass response for the main foregrounds. End-to-end simulations have been shown to reproduce very well the relative gain calibration of detectors, as well as drifts within a frequency induced by the residuals of the main systematic effect (analogue-to-digital convertor non-linearity residuals). Using these simulations, we have been able to measure and correct the small frequency calibration bias induced by this systematic effect at the 10(-4) level. There is no detectable sign of a residual calibration bias between the first and second acoustic peaks in the CMB channels, at the 10(-3) level.
  •  
18.
  • Aghanim, N., et al. (author)
  • Planck intermediate results XLIV. Structure of the Galactic magnetic field from dust polarization maps of the southern Galactic cap
  • 2016
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 596
  • Journal article (peer-reviewed)abstract
    • Using data from the Planck satellite, we study the statistical properties of interstellar dust polarization at high Galactic latitudes around the south pole (b < -60 degrees). Our aim is to advance the understanding of the magnetized interstellar medium (ISM), and to provide a modelling framework of the polarized dust foreground for use in cosmic microwave background (CMB) component-separation procedures. We examine the Stokes I, Q, and U maps at 353 GHz, and particularly the statistical distribution of the polarization fraction (p) and angle (Psi), in order to characterize the ordered and turbulent components of the Galactic magnetic field (GMF) in the solar neighbourhood. The Q and U maps show patterns at large angular scales, which we relate to the mean orientation of the GMF towards Galactic coordinates (l(0); b(0)) = (70 degrees +/- 5 degrees, 24 degrees +/- 5 degrees). The histogram of the observed p values shows a wide dispersion up to 25%. The histogram Psi of has a standard deviation of 12 degrees about the regular pattern expected from the ordered GMF. We build a phenomenological model that connects the distributions of p and Psi to a statistical description of the turbulent component of the GMF, assuming a uniform effective polarization fraction (p(0)) of dust emission. To compute the Stokes parameters, we approximate the integration along the line of sight (LOS) as a sum over a set of N independent polarization layers, in each of which the turbulent component of the GMF is obtained from Gaussian realizations of a power-law power spectrum. We are able to reproduce the observed p and distributions using a p0 value of 26%, a ratio of 0.9 between the strengths of the turbulent and mean components of the GMF, and a small value of N. The mean value of p (inferred from the fit of the large-scale patterns in the Stokes maps) is 12 +/- 1%. We relate the polarization layers to the density structure and to the correlation length of the GMF along the LOS. We emphasize the simplicity of our model (involving only a few parameters), which can be easily computed on the celestial sphere to produce simulated maps of dust polarization. Our work is an important step towards a model that can be used to assess the accuracy of component-separation methods in present and future CMB experiments designed to search the B mode CMB polarization from primordial gravity waves.
  •  
19.
  • Aghanim, N., et al. (author)
  • Planck intermediate results XLVIII. Disentangling Galactic dust emission and cosmic infrared background anisotropies
  • 2016
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 596
  • Journal article (peer-reviewed)abstract
    • Using the Planck 2015 data release (PR2) temperature maps, we separate Galactic thermal dust emission from cosmic infrared background (CIB) anisotropies. For this purpose, we implement a specifically tailored component-separation method, the so-called generalized needlet internal linear combination (GNILC) method, which uses spatial information (the angular power spectra) to disentangle the Galactic dust emission and CIB anisotropies. We produce significantly improved all-sky maps of Planck thermal dust emission, with reduced CIB contamination, at 353, 545, and 857 GHz. By reducing the CIB contamination of the thermal dust maps, we provide more accurate estimates of the local dust temperature and dust spectral index over the sky with reduced dispersion, especially at high Galactic latitudes above b = +/- 20 degrees. We find that the dust temperature is T = (19.4 +/- 1.3) K and the dust spectral index is beta = 1.6 +/- 0.1 averaged over the whole sky, while T = (19.4 +/- 1.5) K and beta = 1.6 +/- 0.2 on 21% of the sky at high latitudes. Moreover, subtracting the new CIB-removed thermal dust maps from the CMB-removed Planck maps gives access to the CIB anisotropies over 60% of the sky at Galactic latitudes vertical bar b vertical bar > 20 degrees. Because they are a significant improvement over previous Planck products, the GNILC maps are recommended for thermal dust science. The new CIB maps can be regarded as indirect tracers of the dark matter and they are recommended for exploring cross-correlations with lensing and large-scale structure optical surveys. The reconstructed GNILC thermal dust and CIB maps are delivered as Planck products.
  •  
20.
  • Akrami, Y., et al. (author)
  • Planck 2018 results II. Low Frequency Instrument data processing
  • 2020
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 641
  • Journal article (peer-reviewed)abstract
    • We present a final description of the data-processing pipeline for the Planck Low Frequency Instrument (LFI), implemented for the 2018 data release. Several improvements have been made with respect to the previous release, especially in the calibration process and in the correction of instrumental features such as the effects of nonlinearity in the response of the analogue-to-digital converters. We provide a brief pedagogical introduction to the complete pipeline, as well as a detailed description of the important changes implemented. Self-consistency of the pipeline is demonstrated using dedicated simulations and null tests. We present the final version of the LFI full sky maps at 30, 44, and 70 GHz, both in temperature and polarization, together with a refined estimate of the solar dipole and a final assessment of the main LFI instrumental parameters.
  •  
21.
  • Akrami, Y., et al. (author)
  • Planck 2018 results IV. Diffuse component separation
  • 2020
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 641
  • Journal article (peer-reviewed)abstract
    • We present full-sky maps of the cosmic microwave background (CMB) and polarized synchrotron and thermal dust emission, derived from the third set of Planck frequency maps. These products have significantly lower contamination from instrumental systematic effects than previous versions. The methodologies used to derive these maps follow closely those described in earlier papers, adopting four methods (Commander, NILC, SEVEM, and SMICA) to extract the CMB component, as well as three methods (Commander, GNILC, and SMICA) to extract astrophysical components. Our revised CMB temperature maps agree with corresponding products in the Planck 2015 delivery, whereas the polarization maps exhibit significantly lower large-scale power, reflecting the improved data processing described in companion papers; however, the noise properties of the resulting data products are complicated, and the best available end-to-end simulations exhibit relative biases with respect to the data at the few percent level. Using these maps, we are for the first time able to fit the spectral index of thermal dust independently over 3 degrees regions. We derive a conservative estimate of the mean spectral index of polarized thermal dust emission of beta (d)=1.55 +/- 0.05, where the uncertainty marginalizes both over all known systematic uncertainties and different estimation techniques. For polarized synchrotron emission, we find a mean spectral index of beta (s)=-3.1 +/- 0.1, consistent with previously reported measurements. We note that the current data processing does not allow for construction of unbiased single-bolometer maps, and this limits our ability to extract CO emission and correlated components. The foreground results for intensity derived in this paper therefore do not supersede corresponding Planck 2015 products. For polarization the new results supersede the corresponding 2015 products in all respects.
  •  
22.
  • Hibar, Derrek P., et al. (author)
  • Novel genetic loci associated with hippocampal volume
  • 2017
  • In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8
  • Journal article (peer-reviewed)abstract
    • The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r(g) = -0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.
  •  
23.
  • Natoli, P., et al. (author)
  • Exploring cosmic origins with CORE : Mitigation of systematic effects
  • 2018
  • In: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :4
  • Journal article (peer-reviewed)abstract
    • We present an analysis of the main systematic effects that could impact the measurement of CMB polarization with the proposed CORE space mission. We employ timeline to-map simulations to verify that the CORE instrumental set-up and scanning strategy allow us to measure sky polarization to a level of accuracy adequate to the mission science goals. We also show how the CORE observations can be processed to mitigate the level of contamination by potentially worrying systematics, including intensity-to-polarization leakage due to bandpass mismatch, asymmetric main beams, pointing errors and correlated noise. We use analysis techniques that are well validated on data from current missions such as Planck to demonstrate how the residual contamination of the measurements by these effects can be brought to a level low enough not to hamper the scientific capability of the mission, nor significantly increase the overall error budget. We also present a prototype of the CORE photometric calibration pipeline, based on that used for Planck, and discuss its robustness to systematics, showing how CORE can achieve its calibration requirements. While a fine-grained assessment of the impact of systematics requires a level of knowledge of the system that can only be achieved in a future study phase, the analysis presented here strongly suggests that the main areas of concern for the CORE mission can be addressed using existing knowledge, techniques and algorithms.
  •  
24.
  • Thompson, Paul M., et al. (author)
  • The ENIGMA Consortium : large-scale collaborative analyses of neuroimaging and genetic data
  • 2014
  • In: BRAIN IMAGING BEHAV. - : Springer Science and Business Media LLC. - 1931-7557 .- 1931-7565. ; 8:2, s. 153-182
  • Journal article (peer-reviewed)abstract
    • The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.
  •  
25.
  • Aghanim, N., et al. (author)
  • Planck intermediate results XLIX. Parity-violation constraints from polarization data
  • 2016
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 596
  • Journal article (peer-reviewed)abstract
    • Parity-violating extensions of the standard electromagnetic theory cause in vacuo rotation of the plane of polarization of propagating photons. This effect, also known as cosmic birefringence, has an impact on the cosmic microwave background (CMB) anisotropy angular power spectra, producing non-vanishing T-B and E-B correlations that are otherwise null when parity is a symmetry. Here we present new constraints on an isotropic rotation, parametrized by the angle alpha, derived from Planck 2015 CMB polarization data. To increase the robustness of our analyses, we employ two complementary approaches, in harmonic space and in map space, the latter based on a peak stacking technique. The two approaches provide estimates for alpha that are in agreement within statistical uncertainties and are very stable against several consistency tests. Considering the T-B and E-B information jointly, we find alpha = 0 degrees: 31 +/- 0 degrees.05 (stat:) +/- 0 degrees:28 (syst:) from the harmonic analysis and alpha = 0 degrees.35 +/- 0 degrees.05 (stat :) 0 degrees.28 (syst :) from the stacking approach. These constraints are compatible with no parity violation and are dominated by the systematic uncertainty in the orientation of Planck's polarization-sensitive bolometers.
  •  
26.
  • Akrami, Y., et al. (author)
  • Planck 2018 results VII. Isotropy and statistics of the CMB
  • 2020
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 641
  • Journal article (peer-reviewed)abstract
    • Analysis of the Planck 2018 data set indicates that the statistical properties of the cosmic microwave background (CMB) temperature anisotropies are in excellent agreement with previous studies using the 2013 and 2015 data releases. In particular, they are consistent with the Gaussian predictions of the Lambda CDM cosmological model, yet also confirm the presence of several so-called anomalies on large angular scales. The novelty of the current study, however, lies in being a first attempt at a comprehensive analysis of the statistics of the polarization signal over all angular scales, using either maps of the Stokes parameters, Q and U, or the E-mode signal derived from these using a new methodology (which we describe in an appendix). Although remarkable progress has been made in reducing the systematic effects that contaminated the 2015 polarization maps on large angular scales, it is still the case that residual systematics (and our ability to simulate them) can limit some tests of non-Gaussianity and isotropy. However, a detailed set of null tests applied to the maps indicates that these issues do not dominate the analysis on intermediate and large angular scales (i.e., l less than or similar to 400). In this regime, no unambiguous detections of cosmological non-Gaussianity, or of anomalies corresponding to those seen in temperature, are claimed. Notably, the stacking of CMB polarization signals centred on the positions of temperature hot and cold spots exhibits excellent agreement with the Lambda CDM cosmological model, and also gives a clear indication of how Planck provides state-of-the-art measurements of CMB temperature and polarization on degree scales.
  •  
27.
  • Akrami, Y., et al. (author)
  • Planck intermediate results LIV. The Planck multi-frequency catalogue of non-thermal sources
  • 2018
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 619
  • Journal article (peer-reviewed)abstract
    • This paper presents the Planck Multi-frequency Catalogue of Non-thermal (i.e. synchrotron-dominated) Sources (PCNT) observed between 30 and 857 GHz by the ESA Planck mission. This catalogue was constructed by selecting objects detected in the full mission all-sky temperature maps at 30 and 143 GHz, with a signal-to-noise ratio (S/N) > 3 in at least one of the two channels after filtering with a particular Mexican hat wavelet. As a result, 29 400 source candidates were selected. Then, a multi-frequency analysis was performed using the Matrix Filters methodology at the position of these objects, and flux densities and errors were calculated for all of them in the nine Planck channels. This catalogue was built using a different methodology than the one adopted for the Planck Catalogue of Compact Sources (PCCS) and the Second Planck Catalogue of Compact Sources (PCCS2), although the initial detection was done with the same pipeline that was used to produce them. The present catalogue is the first unbiased, full-sky catalogue of synchrotron-dominated sources published at millimetre and submillimetre wavelengths and constitutes a powerful database for statistical studies of non-thermal extragalactic sources, whose emission is dominated by the central active galactic nucleus. Together with the full multi-frequency catalogue, we also define the Bright Planck Multi-frequency Catalogue of Non-thermal Sources (PCNTb), where only those objects with a S/N > 4 at both 30 and 143 GHz were selected. In this catalogue 1146 compact sources are detected outside the adopted Planck GAL070 mask; thus, these sources constitute a highly reliable sample of extragalactic radio sources. We also flag the high-significance subsample (PCNThs), a subset of 151 sources that are detected with S/N > 4 in all nine Planck channels, 75 of which are found outside the Planck mask adopted here. The remaining 76 sources inside the Galactic mask are very likely Galactic objects.
  •  
28.
  • Aghanim, N., et al. (author)
  • Planck intermediate results LIII. Detection of velocity dispersion from the kinetic Sunyaev-Zeldovich effect
  • 2018
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 617
  • Journal article (peer-reviewed)abstract
    • Using the Planck full-mission data, we present a detection of the temperature (and therefore velocity) dispersion due to the kinetic Sunyaev-Zeldovich (kSZ) effect from clusters of galaxies. To suppress the primary CMB and instrumental noise we derive a matched filter and then convolve it with the Planck foreground-cleaned 2D- ILC maps. By using the Meta Catalogue of X-ray detected Clusters of galaxies (MCXC), we determine the normalized rms dispersion of the temperature fluctuations at the positions of clusters, finding that this shows excess variance compared with the noise expectation. We then build an unbiased statistical estimator of the signal, determining that the normalized mean temperature dispersion of 1526 clusters is <(Delta T/T)(2))> = (1.64 +/- 0.48) x 10(-11). However, comparison with analytic calculations and simulations suggest that around 0.7 sigma of this result is due to cluster lensing rather than the kSZ effect. By correcting this, the temperature dispersion is measured to be <(Delta T/T)(2))> = (1.35 +/- 0.48) x 10(-11), which gives a detection at the 2.8 sigma level. We further convert uniform-weight temperature dispersion into a measurement of the line-of-sight velocity dispersion, by using estimates of the optical depth of each cluster (which introduces additional uncertainty into the estimate). We find that the velocity dispersion is (v(2)) = (123 000 +/- 71 000) (km s(-1))(2), which is consistent with findings from other large-scale structure studies, and provides direct evidence of statistical homogeneity on scales of 600 h(-1) Mpc. Our study shows the promise of using cross-correlations of the kSZ effect with large-scale structure in order to constrain the growth of structure.
  •  
29.
  •  
30.
  • Bentham, James, et al. (author)
  • A century of trends in adult human height
  • 2016
  • In: eLIFE. - 2050-084X. ; 5
  • Journal article (peer-reviewed)abstract
    • Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.522.7) and 16.5 cm (13.319.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.
  •  
31.
  • Burigana, C., et al. (author)
  • Exploring cosmic origins with CORE : Effects of observer peculiar motion
  • 2018
  • In: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :4
  • Journal article (peer-reviewed)abstract
    • We discuss the effects on the cosmic microwave background (CMB), cosmic infrared background (CIB), and thermal Sunyaev-Zeldovich effect due to the peculiar motion of an observer with respect to the CMB rest frame, which induces boosting effects. After a brief review of the current observational and theoretical status, we investigate the scientific perspectives opened by future CMB space missions, focussing on the Cosmic Origins Explorer (CORE) proposal. The improvements in sensitivity offered by a mission like CORE, together with its high resolution over a wide frequency range, will provide a more accurate estimate of the CMB dipole. The extension of boosting effects to polarization and cross-correlations will enable a more robust determination of purely velocity-driven effects that are not degenerate with the intrinsic CMB dipole, allowing us to achieve an overall signal-to-noise ratio of 13; this improves on the Planck detection and essentially equals that of an ideal cosmic variance-limited experiment up to a multipole l similar or equal to 2000. Precise inter-frequency calibration will offer the opportunity to constrain or even detect CMB spectral distortions, particularly from the cosmological reionization epoch, because of the frequency dependence of the dipole spectrum, without resorting to precise absolute calibration. The expected improvement with respect to COBE-FIRAS in the recovery of distortion parameters (which could in principle be a factor of several hundred for an ideal experiment with the CORE configuration) ranges from a factor of several up to about 50, depending on the quality of foreground removal and relative calibration. Even in the case of similar or equal to 1% accuracy in both foreground removal and relative calibration at an angular scale of 1 degrees, we find that dipole analyses for a mission like CORE will be able to improve the recovery of the CIB spectrum amplitude by a factor similar or equal to 17 in comparison with current results based on COBE-FIRAS. In addition to the scientific potential of a mission like CORE for these analyses, synergies with other planned and ongoing projects are also discussed.
  •  
32.
  • Challinor, A., et al. (author)
  • Exploring cosmic origins with CORE : Gravitational lensing of the CMB
  • 2018
  • In: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :4
  • Journal article (peer-reviewed)abstract
    • Lensing of the cosmic microwave background (CMB) is now a well-developed probe of the clustering of the large-scale mass distribution over a broad range of redshifts. By exploiting the non-Gaussian imprints of lensing in the polarization of the CMB, the CORE mission will allow production of a clean map of the lensing deflections over nearly the full-sky. The number of high-SAN modes in this map will exceed current CMB lensing maps by a factor of 40, and the measurement will be sample-variance limited on all scales where linear theory is valid. Here, we summarise this mission product and discuss the science that will follow from its power spectrum and the cross-correlation with other clustering data. For example, the summed mass of neutrinos will be determined to an accuracy of 17 meV combining CORE lensing and CMB two-point information with contemporaneous measurements of the baryon acoustic oscillation feature in the clustering of galaxies, three times smaller than the minimum total mass allowed by neutrino oscillation measurements. Lensing has applications across many other science goals of CORE, including the search for B-mode polarization from primordial gravitational waves. Here, lens-induced B-modes will dominate over instrument noise, limiting constraints on the power spectrum amplitude of primordial gravitational waves. With lensing reconstructed by CORE, one can delens the observed polarization internally, reducing the lensing B-mode power by 60 %. This can be improved to 70 % by combining lensing and measurements of the cosmic infrared background from CORE, leading to an improvement of a factor of 2.5 in the error on the amplitude of primordial gravitational waves compared to no delensing (in the null hypothesis of no primordial B-modes). Lensing measurements from CORE will allow calibration of the halo masses of the tens of thousands of galaxy clusters that it will find, with constraints dominated by the clean polarization-based estimators. The 19 frequency channels proposed for CORE will allow accurate removal of Galactic emission from CMB maps. We present initial findings that show that residual Galactic foreground contamination will not be a significant source of bias for lensing power spectrum measurements with CORE.
  •  
33.
  • Justice, Anne E., et al. (author)
  • Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
  • 2019
  • In: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:3, s. 452-469
  • Journal article (peer-reviewed)abstract
    • Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF >= 5%) and nine low-frequency or rare (MAF < 5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.
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34.
  • Kattge, Jens, et al. (author)
  • TRY plant trait database - enhanced coverage and open access
  • 2020
  • In: Global Change Biology. - : Wiley-Blackwell. - 1354-1013 .- 1365-2486. ; 26:1, s. 119-188
  • Journal article (peer-reviewed)abstract
    • Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives.
  •  
35.
  • Marouli, Eirini, et al. (author)
  • Rare and low-frequency coding variants alter human adult height
  • 2017
  • In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190
  • Journal article (peer-reviewed)abstract
    • Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
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36.
  • Remazeilles, M., et al. (author)
  • Exploring cosmic origins with CORE : B-mode component separation
  • 2018
  • In: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :4
  • Journal article (peer-reviewed)abstract
    • We demonstrate that, for the baseline design of the CORE satellite mission, the polarized foregrounds can be controlled at the level required to allow the detection of the primordial cosmic microwave background (CMB) B-mode polarization with the desired accuracy at both reionization and recombination scales, for tensor-to-scalar ratio values of r greater than or similar to 5 x 10(-3). We consider detailed sky simulations based on state-of-the-art CMB observations that consist of CMB polarization with tau = 0.055 and tensor-to-scalar values ranging from r = 10(-2) to 10(-3), Galactic synchrotron, and thermal dust polarization with variable spectral indices over the sky, polarized anomalous microwave emission, polarized infrared and radio sources, and gravitational lensing effects. Using both parametric and blind approaches, we perform full component separation and likelihood analysis of the simulations, allowing us to quantify both uncertainties and biases on the reconstructed primordial B-modes. Under the assumption of perfect control of lensing effects, CORE would measure an unbiased estimate of r = (5 +/- 0.4) x 10(-3) after foreground cleaning. In the presence of both gravitational lensing effects and astrophysical foregrounds, the significance of the detection is lowered, with CORE achieving a 4 sigma-measurement of r = 5 x 10(-3) after foreground cleaning and 60% de lensing. For lower tensor-to-scalar ratios (r = 10(-3)) the overall uncertainty on r is dominated by foreground residuals, not by the 40% residual of lensing cosmic variance. Moreover, the residual contribution of unprocessed polarized point-sources can be the dominant foreground contamination to primordial B-modes at this r level, even on relatively large angular scales, l similar to 50. Finally, we report two sources of potential bias for the detection of the primordial B-modes by future CMB experiments: (i) the use of incorrect foreground models, e.g. a modelling error of Delta beta(s) = 0.02 on the synchrotron spectral indices may result in an excess in the recovered reionization peak corresponding to an effective Delta r > 10(-3); (ii) the average of the foreground line-of-sight spectral indices by the combined effects of pixelization and beam convolution, which adds an effective curvature to the foreground spectral energy distribution and may cause spectral degeneracies with the CMB in the frequency range probed by the experiment.
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37.
  • Satizabal, Claudia L., et al. (author)
  • Genetic architecture of subcortical brain structures in 38,851 individuals
  • 2019
  • In: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:11, s. 1624-
  • Journal article (peer-reviewed)abstract
    • Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.
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38.
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39.
  • Lango Allen, Hana, et al. (author)
  • Hundreds of variants clustered in genomic loci and biological pathways affect human height.
  • 2010
  • In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 467:7317, s. 832-8
  • Journal article (peer-reviewed)abstract
    • Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.
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40.
  • Werren, John H, et al. (author)
  • Functional and evolutionary insights from the genomes of three parasitoid Nasonia species.
  • 2010
  • In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 327:5963, s. 343-8
  • Journal article (peer-reviewed)abstract
    • We report here genome sequences and comparative analyses of three closely related parasitoid wasps: Nasonia vitripennis, N. giraulti, and N. longicornis. Parasitoids are important regulators of arthropod populations, including major agricultural pests and disease vectors, and Nasonia is an emerging genetic model, particularly for evolutionary and developmental genetics. Key findings include the identification of a functional DNA methylation tool kit; hymenopteran-specific genes including diverse venoms; lateral gene transfers among Pox viruses, Wolbachia, and Nasonia; and the rapid evolution of genes involved in nuclear-mitochondrial interactions that are implicated in speciation. Newly developed genome resources advance Nasonia for genetic research, accelerate mapping and cloning of quantitative trait loci, and will ultimately provide tools and knowledge for further increasing the utility of parasitoids as pest insect-control agents.
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41.
  • Bentham, James, et al. (author)
  • A century of trends in adult human height
  • 2016
  • In: eLIFE. - : eLife Sciences Publications Ltd. - 2050-084X. ; 5
  • Journal article (peer-reviewed)abstract
    • Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.5–22.7) and 16.5 cm (13.3– 19.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8– 144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.
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42.
  • Locke, Adam E, et al. (author)
  • Genetic studies of body mass index yield new insights for obesity biology.
  • 2015
  • In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
  • Journal article (peer-reviewed)abstract
    • Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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43.
  • Turcot, Valerie, et al. (author)
  • Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
  • 2018
  • In: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:1, s. 26-41
  • Journal article (peer-reviewed)abstract
    • Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are similar to 10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed similar to 7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
  •  
44.
  • Berndt, Sonja I., et al. (author)
  • Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
  • 2013
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:5, s. 501-U69
  • Journal article (peer-reviewed)abstract
    • Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
  •  
45.
  • Mahajan, Anubha, et al. (author)
  • Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes
  • 2018
  • In: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:4, s. 559-571
  • Journal article (peer-reviewed)abstract
    • We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls of diverse ancestry, identifying 40 coding variant association signals (P < 2.2 × 10−7); of these, 16 map outside known risk-associated loci. We make two important observations. First, only five of these signals are driven by low-frequency variants: even for these, effect sizes are modest (odds ratio ≤1.29). Second, when we used large-scale genome-wide association data to fine-map the associated variants in their regional context, accounting for the global enrichment of complex trait associations in coding sequence, compelling evidence for coding variant causality was obtained for only 16 signals. At 13 others, the associated coding variants clearly represent ‘false leads’ with potential to generate erroneous mechanistic inference. Coding variant associations offer a direct route to biological insight for complex diseases and identification of validated therapeutic targets; however, appropriate mechanistic inference requires careful specification of their causal contribution to disease predisposition.
  •  
46.
  • Richards, Stephen, et al. (author)
  • Genome Sequence of the Pea Aphid Acyrthosiphon pisum
  • 2010
  • In: PLoS biology. - : Public Library of Science (PLoS). - 1544-9173 .- 1545-7885. ; 8:2, s. e1000313-
  • Journal article (peer-reviewed)abstract
    • Aphids are important agricultural pests and also biological models for studies of insect-plant interactions, symbiosis, virus vectoring, and the developmental causes of extreme phenotypic plasticity. Here we present the 464 Mb draft genome assembly of the pea aphid Acyrthosiphon pisum. This first published whole genome sequence of a basal hemimetabolous insect provides an outgroup to the multiple published genomes of holometabolous insects. Pea aphids are host-plant specialists, they can reproduce both sexually and asexually, and they have coevolved with an obligate bacterial symbiont. Here we highlight findings from whole genome analysis that may be related to these unusual biological features. These findings include discovery of extensive gene duplication in more than 2000 gene families as well as loss of evolutionarily conserved genes. Gene family expansions relative to other published genomes include genes involved in chromatin modification, miRNA synthesis, and sugar transport. Gene losses include genes central to the IMD immune pathway, selenoprotein utilization, purine salvage, and the entire urea cycle. The pea aphid genome reveals that only a limited number of genes have been acquired from bacteria; thus the reduced gene count of Buchnera does not reflect gene transfer to the host genome. The inventory of metabolic genes in the pea aphid genome suggests that there is extensive metabolite exchange between the aphid and Buchnera, including sharing of amino acid biosynthesis between the aphid and Buchnera. The pea aphid genome provides a foundation for post-genomic studies of fundamental biological questions and applied agricultural problems.
  •  
47.
  • Ried, Janina S., et al. (author)
  • A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape
  • 2016
  • In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
  • Journal article (peer-reviewed)abstract
    • 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.
  •  
48.
  • Do, Ron, et al. (author)
  • Common variants associated with plasma triglycerides and risk for coronary artery disease
  • 2013
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:11, s. 1345-
  • Journal article (peer-reviewed)abstract
    • Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common variants recently mapped for plasma lipids (P < 5 x 10(-8) for each) to examine the role of triglycerides in risk for CAD. First, we highlight loci associated with both low-density lipoprotein cholesterol (LDL-C) and triglyceride levels, and we show that the direction and magnitude of the associations with both traits are factors in determining CAD risk. Second, we consider loci with only a strong association with triglycerides and show that these loci are also associated with CAD. Finally, in a model accounting for effects on LDL-C and/or high-density lipoprotein cholesterol (HDL-C) levels, the strength of a polymorphism's effect on triglyceride levels is correlated with the magnitude of its effect on CAD risk. These results suggest that triglyceride-rich lipoproteins causally influence risk for CAD.
  •  
49.
  • Shungin, Dmitry, et al. (author)
  • New genetic loci link adipose and insulin biology to body fat distribution.
  • 2015
  • In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 187-378
  • Journal article (peer-reviewed)abstract
    • Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
  •  
50.
  • Stitziel, Nathan O., et al. (author)
  • Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease
  • 2016
  • In: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 374:12, s. 1134-1144
  • Journal article (peer-reviewed)abstract
    • BACKGROUND The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets. METHODS Through DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 human genes in up to 72,868 patients with coronary artery disease and 120,770 controls who did not have coronary artery disease. Through DNA sequencing, we studied the effects of loss-of-function mutations in selected genes. RESULTS We confirmed previously observed significant associations between coronary artery disease and low-frequency missense variants in the genes LPA and PCSK9. We also found significant associations between coronary artery disease and low-frequency missense variants in the genes SVEP1 (p.D2702G; minor-allele frequency, 3.60%; odds ratio for disease, 1.14; P = 4.2x10(-10)) and ANGPTL4 (p.E40K; minor-allele frequency, 2.01%; odds ratio, 0.86; P = 4.0x10(-8)), which encodes angiopoietin-like 4. Through sequencing of ANGPTL4, we identified 9 carriers of loss-of-function mutations among 6924 patients with myocardial infarction, as compared with 19 carriers among 6834 controls (odds ratio, 0.47; P = 0.04); carriers of ANGPTL4 loss-of-function alleles had triglyceride levels that were 35% lower than the levels among persons who did not carry a loss-of-function allele (P = 0.003). ANGPTL4 inhibits lipoprotein lipase; we therefore searched for mutations in LPL and identified a loss-of-function variant that was associated with an increased risk of coronary artery disease (p.D36N; minor-allele frequency, 1.9%; odds ratio, 1.13; P = 2.0x10(-4)) and a gain-of-function variant that was associated with protection from coronary artery disease (p.S447*; minor-allele frequency, 9.9%; odds ratio, 0.94; P = 2.5x10(-7)). CONCLUSIONS We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride levels that were lower than those among noncarriers; these mutations were also associated with protection from coronary artery disease.
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