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1.
  • van Leeuwen, F., et al. (författare)
  • Gaia Data Release 1 : Open cluster astrometry: Performance, limitations, and future prospects
  • 2017
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 601
  • Tidskriftsartikel (refereegranskat)abstract
    • Context. The first Gaia Data Release contains the Tycho-Gaia Astrometric Solution (TGAS). This is a subset of about 2 million stars for which, besides the position and photometry, the proper motion and parallax are calculated using Hipparcos and Tycho-2 positions in 1991.25 as prior information. Aims. We investigate the scientific potential and limitations of the TGAS component by means of the astrometric data for open clusters. Methods. Mean cluster parallax and proper motion values are derived taking into account the error correlations within the astrometric solutions for individual stars, an estimate of the internal velocity dispersion in the cluster, and, where relevant, the effects of the depth of the cluster along the line of sight. Internal consistency of the TGAS data is assessed. Results. Values given for standard uncertainties are still inaccurate and may lead to unrealistic unit-weight standard deviations of least squares solutions for cluster parameters. Reconstructed mean cluster parallax and proper motion values are generally in very good agreement with earlier Hipparcos-based determination, although the Gaia mean parallax for the Pleiades is a significant exception. We have no current explanation for that discrepancy. Most clusters are observed to extend to nearly 15 pc from the cluster centre, and it will be up to future Gaia releases to establish whether those potential cluster-member stars are still dynamically bound to the clusters. Conclusions. The Gaia DR1 provides the means to examine open clusters far beyond their more easily visible cores, and can provide membership assessments based on proper motions and parallaxes. A combined HR diagram shows the same features as observed before using the Hipparcos data, with clearly increased luminosities for older A and F dwarfs.
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2.
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3.
  • 2019
  • Tidskriftsartikel (refereegranskat)
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4.
  • Kim, Jae-Young, et al. (författare)
  • Event Horizon Telescope imaging of the archetypal blazar 3C 279 at an extreme 20 microarcsecond resolution
  • 2020
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 640
  • Tidskriftsartikel (refereegranskat)abstract
    • 3C 279 is an archetypal blazar with a prominent radio jet that show broadband flux density variability across the entire electromagnetic spectrum. We use an ultra-high angular resolution technique - global Very Long Baseline Interferometry (VLBI) at 1.3mm (230 GHz) - to resolve the innermost jet of 3C 279 in order to study its fine-scale morphology close to the jet base where highly variable-ray emission is thought to originate, according to various models. The source was observed during four days in April 2017 with the Event Horizon Telescope at 230 GHz, including the phased Atacama Large Millimeter/submillimeter Array, at an angular resolution of ∼20 μas (at a redshift of z = 0:536 this corresponds to ∼0:13 pc ∼ 1700 Schwarzschild radii with a black hole mass MBH = 8 × 108 M⊙). Imaging and model-fitting techniques were applied to the data to parameterize the fine-scale source structure and its variation.We find a multicomponent inner jet morphology with the northernmost component elongated perpendicular to the direction of the jet, as imaged at longer wavelengths. The elongated nuclear structure is consistent on all four observing days and across diffierent imaging methods and model-fitting techniques, and therefore appears robust. Owing to its compactness and brightness, we associate the northern nuclear structure as the VLBI "core". This morphology can be interpreted as either a broad resolved jet base or a spatially bent jet.We also find significant day-to-day variations in the closure phases, which appear most pronounced on the triangles with the longest baselines. Our analysis shows that this variation is related to a systematic change of the source structure. Two inner jet components move non-radially at apparent speeds of ∼15 c and ∼20 c (∼1:3 and ∼1:7 μas day-1, respectively), which more strongly supports the scenario of traveling shocks or instabilities in a bent, possibly rotating jet. The observed apparent speeds are also coincident with the 3C 279 large-scale jet kinematics observed at longer (cm) wavelengths, suggesting no significant jet acceleration between the 1.3mm core and the outer jet. The intrinsic brightness temperature of the jet components are ≤1010 K, a magnitude or more lower than typical values seen at ≥7mm wavelengths. The low brightness temperature and morphological complexity suggest that the core region of 3C 279 becomes optically thin at short (mm) wavelengths.
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5.
  • Klionsky, Daniel J., et al. (författare)
  • Guidelines for the use and interpretation of assays for monitoring autophagy
  • 2012
  • Ingår i: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 8:4, s. 445-544
  • Forskningsöversikt (refereegranskat)abstract
    • In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process vs. those that measure flux through the autophagy pathway (i.e., the complete process); thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from stimuli that result in increased autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field.
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6.
  • Tinetti, Giovanna, et al. (författare)
  • The EChO science case
  • 2015
  • Ingår i: Experimental astronomy. - : Springer Science and Business Media LLC. - 0922-6435 .- 1572-9508. ; 40:2-3, s. 329-391
  • Tidskriftsartikel (refereegranskat)abstract
    • The discovery of almost two thousand exoplanets has revealed an unexpectedly diverse planet population. We see gas giants in few-day orbits, whole multi-planet systems within the orbit of Mercury, and new populations of planets with masses between that of the Earth and Neptune-all unknown in the Solar System. Observations to date have shown that our Solar System is certainly not representative of the general population of planets in our Milky Way. The key science questions that urgently need addressing are therefore: What are exoplanets made of? Why are planets as they are? How do planetary systems work and what causes the exceptional diversity observed as compared to the Solar System? The EChO (Exoplanet Characterisation Observatory) space mission was conceived to take up the challenge to explain this diversity in terms of formation, evolution, internal structure and planet and atmospheric composition. This requires in-depth spectroscopic knowledge of the atmospheres of a large and well-defined planet sample for which precise physical, chemical and dynamical information can be obtained. In order to fulfil this ambitious scientific program, EChO was designed as a dedicated survey mission for transit and eclipse spectroscopy capable of observing a large, diverse and well-defined planet sample within its 4-year mission lifetime. The transit and eclipse spectroscopy method, whereby the signal from the star and planet are differentiated using knowledge of the planetary ephemerides, allows us to measure atmospheric signals from the planet at levels of at least 10(-4) relative to the star. This can only be achieved in conjunction with a carefully designed stable payload and satellite platform. It is also necessary to provide broad instantaneous wavelength coverage to detect as many molecular species as possible, to probe the thermal structure of the planetary atmospheres and to correct for the contaminating effects of the stellar photosphere. This requires wavelength coverage of at least 0.55 to 11 mu m with a goal of covering from 0.4 to 16 mu m. Only modest spectral resolving power is needed, with R similar to 300 for wavelengths less than 5 mu m and R similar to 30 for wavelengths greater than this. The transit spectroscopy technique means that no spatial resolution is required. A telescope collecting area of about 1 m(2) is sufficiently large to achieve the necessary spectro-photometric precision: for the Phase A study a 1.13 m(2) telescope, diffraction limited at 3 mu m has been adopted. Placing the satellite at L2 provides a cold and stable thermal environment as well as a large field of regard to allow efficient time-critical observation of targets randomly distributed over the sky. EChO has been conceived to achieve a single goal: exoplanet spectroscopy. The spectral coverage and signal-to-noise to be achieved by EChO, thanks to its high stability and dedicated design, would be a game changer by allowing atmospheric composition to be measured with unparalleled exactness: at least a factor 10 more precise and a factor 10 to 1000 more accurate than current observations. This would enable the detection of molecular abundances three orders of magnitude lower than currently possible and a fourfold increase from the handful of molecules detected to date. Combining these data with estimates of planetary bulk compositions from accurate measurements of their radii and masses would allow degeneracies associated with planetary interior modelling to be broken, giving unique insight into the interior structure and elemental abundances of these alien worlds. EChO would allow scientists to study exoplanets both as a population and as individuals. The mission can target super-Earths, Neptune-like, and Jupiter-like planets, in the very hot to temperate zones (planet temperatures of 300-3000 K) of F to M-type host stars. The EChO core science would be delivered by a three-tier survey. The EChO Chemical Census: This is a broad survey of a few-hundred exoplanets, which allows us to explore the spectroscopic and chemical diversity of the exoplanet population as a whole. The EChO Origin: This is a deep survey of a subsample of tens of exoplanets for which significantly higher signal to noise and spectral resolution spectra can be obtained to explain the origin of the exoplanet diversity (such as formation mechanisms, chemical processes, atmospheric escape). The EChO Rosetta Stones: This is an ultra-high accuracy survey targeting a subsample of select exoplanets. These will be the bright "benchmark" cases for which a large number of measurements would be taken to explore temporal variations, and to obtain two and three dimensional spatial information on the atmospheric conditions through eclipse-mapping techniques. If EChO were launched today, the exoplanets currently observed are sufficient to provide a large and diverse sample. The Chemical Census survey would consist of > 160 exoplanets with a range of planetary sizes, temperatures, orbital parameters and stellar host properties. Additionally, over the next 10 years, several new ground- and space-based transit photometric surveys and missions will come on-line (e.g. NGTS, CHEOPS, TESS, PLATO), which will specifically focus on finding bright, nearby systems. The current rapid rate of discovery would allow the target list to be further optimised in the years prior to EChO's launch and enable the atmospheric characterisation of hundreds of planets.
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7.
  • Leleu, A., et al. (författare)
  • Six transiting planets and a chain of Laplace resonances in TOI-178
  • 2021
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 649
  • Tidskriftsartikel (refereegranskat)abstract
    • Determining the architecture of multi-planetary systems is one of the cornerstones of understanding planet formation and evolution. Resonant systems are especially important as the fragility of their orbital configuration ensures that no significant scattering or collisional event has taken place since the earliest formation phase when the parent protoplanetary disc was still present. In this context, TOI-178 has been the subject of particular attention since the first TESS observations hinted at the possible presence of a near 2:3:3 resonant chain. Here we report the results of observations from CHEOPS, ESPRESSO, NGTS, and SPECULOOS with the aim of deciphering the peculiar orbital architecture of the system. We show that TOI-178 harbours at least six planets in the super-Earth to mini-Neptune regimes, with radii ranging from 1.152 to 2.87 Earth radii and periods of 1.91, 3.24, 6.56, 9.96, 15.23, and 20.71 days. All planets but the innermost one form a 2:4:6:9:12 chain of Laplace resonances, and the planetary densities show important variations from planet to planet, jumping from 1.02 to 0.177 times the Earth's density between planets c and d. Using Bayesian interior structure retrieval models, we show that the amount of gas in the planets does not vary in a monotonous way, contrary to what one would expect from simple formation and evolution models and unlike other known systems in a chain of Laplace resonances. The brightness of TOI-178 (H = 8.76 mag, J = 9.37 mag, V = 11.95 mag) allows for a precise characterisation of its orbital architecture as well as of the physical nature of the six presently known transiting planets it harbours. The peculiar orbital configuration and the diversity in average density among the planets in the system will enable the study of interior planetary structures and atmospheric evolution, providing important clues on the formation of super-Earths and mini-Neptunes. -0.070 -0.13 -0.23 -0.061 +0.073 +0.14 +0.28 +0.055
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8.
  • Speliotes, Elizabeth K., et al. (författare)
  • Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
  • 2010
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 937-948
  • Tidskriftsartikel (refereegranskat)abstract
    • Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ~2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 × 10−8), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.
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9.
  • Cabrera, J., et al. (författare)
  • The planetary system around HD 190622 (TOI-1054): Measuring the gas content of low-mass planets orbiting F-stars
  • 2023
  • Ingår i: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 675
  • Tidskriftsartikel (refereegranskat)abstract
    • Context. Giant planets are known to dominate the long-term stability of planetary systems due to their prevailing gravitational interactions, but they are also thought to play an important role in planet formation. Observational constraints improve our understanding of planetary formation processes such as the delivery of volatile-rich planetesimals from beyond the ice line into the inner planetary system. Additional constraints may come from studies of the atmosphere, but almost all such studies of the atmosphere investigate the detection of certain species, and abundances are not routinely quantitatively measured. Aims. Accurate measurements of planetary bulk parameters-that is, mass and density-provide constraints on the inner structure and chemical composition of transiting planets. This information provides insight into properties such as the amounts of volatile species, which in turn can be related to formation and evolution processes. Methods. The Transiting Exoplanet Survey Satellite (TESS) reported a planetary candidate around HD 190622 (TOI-1054), which was subsequently validated and found to merit further characterization with photometric and spectroscopic facilities. The KESPRINT collaboration used data from the High Accuracy Radial Velocity Planet Searcher (HARPS) to independently confirm the planetary candidate, securing its mass, and revealing the presence of an outer giant planet in the system. The CHEOPS consortium invested telescope time in the transiting target in order to reduce the uncertainty on the radius, improving the characterization of the planet. Results. We present the discovery and characterization of the planetary system around HD 190622 (TOI-1054). This system hosts one transiting planet, which is smaller than Neptune (3.087-0.053+0.058REarth, 7.7 ± 1.0 MEarth) but has a similar bulk density (1.43 ± 0.21 g cm-3) and an orbital period of 16 days; and a giant planet, not known to be transiting, with a minimum mass of 227.0 ± 6.7 MEarth in an orbit with a period of 315 days. Conclusions. Our measurements constrain the structure and composition of the transiting planet. HD 190622b has singular properties among the known population of transiting planets, which we discuss in detail. Among the sub-Neptune-sized planets known today, this planet stands out because of its large gas content.
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10.
  • Clark, Andrew G., et al. (författare)
  • Evolution of genes and genomes on the Drosophila phylogeny
  • 2007
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
  • Tidskriftsartikel (refereegranskat)abstract
    • Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
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11.
  • Harre, J. V., et al. (författare)
  • Examining the orbital decay targets KELT-9 b, KELT-16 b, and WASP-4 b, and the transit-timing variations of HD 97658 b
  • 2023
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 669
  • Tidskriftsartikel (refereegranskat)abstract
    • Context. Tidal orbital decay is suspected to occur for hot Jupiters in particular, with the only observationally confirmed case of this being WASP-12 b. By examining this effect, information on the properties of the host star can be obtained using the so-called stellar modified tidal quality factor Q′∗, which describes the efficiency with which the kinetic energy of the planet is dissipated within the star. This can provide information about the interior of the star. Aims. In this study, we aim to improve constraints on the tidal decay of the KELT-9, KELT-16, and WASP-4 systems in order to find evidence for or against the presence of tidal orbital decay. With this, we want to constrain the Q′∗ value for each star. In addition, we aim to test the existence of the transit timing variations (TTVs) in the HD 97658 system, which previously favoured a quadratic trend with increasing orbital period. Methods. Making use of newly acquired photometric observations from CHEOPS (CHaracterising ExOplanet Satellite) and TESS (Transiting Exoplanet Survey Satellite), combined with archival transit and occultation data, we use Markov chain Monte Carlo (MCMC) algorithms to fit three models to the data, namely a constant-period model, an orbital-decay model, and an apsidal-precession model. Results. We find that the KELT-9 system is best described by an apsidal-precession model for now, with an orbital decay trend at over 2 σ being a possible solution as well. A Keplerian orbit model with a constant orbital period provides the best fit to the transit timings of KELT-16 b because of the scatter and scale of their error bars. The WASP-4 system is best represented by an orbital decay model at a 5 σ significance, although apsidal precession cannot be ruled out with the present data. For HD 97658 b, using recently acquired transit observations, we find no conclusive evidence for a previously suspected strong quadratic trend in the data.
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12.
  • Hoyer, S., et al. (författare)
  • Characterization of the HD 108236 system with CHEOPS and TESS Confirmation of a fifth transiting planet
  • 2022
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 668
  • Tidskriftsartikel (refereegranskat)abstract
    • Context. The HD 108236 system was first announced with the detection of four small planets based on TESS data. Shortly after, the transit of an additional planet with a period of 29.54 d was serendipitously detected by CHEOPS. In this way, HD 108236 (V = 9.2) became one of the brightest stars known to host five small transiting planets (Rp < 3 Ro˙). Aims. We characterize the planetary system by using all the data available from CHEOPS and TESS space missions. We use the flexible pointing capabilities of CHEOPS to follow up the transits of all the planets in the system, including the fifth transiting body. Methods. After updating the host star parameters by using the results from Gaia eDR3, we analyzed 16 and 43 transits observed by CHEOPS and TESS, respectively, to derive the planets' physical and orbital parameters. We carried out a timing analysis of the transits of each of the planets of HD 108236 to search for the presence of transit timing variations. Results. We derived improved values for the radius and mass of the host star (R∗ = 0.876 ± 0.007 R0 and M∗ = 0.867-0.046+0.047M). We confirm the presence of the fifth transiting planet f in a 29.54 d orbit. Thus, the HD 108236 system consists of five planets of Rb = 1.587±0.028, Rc = 2.122±0.025, Rd = 2.629 ± 0.031, Re = 3.008 ± 0.032, and Rf = 1.89 ± 0.04 [Ro˙]. We refine the transit ephemeris for each planet and find no significant transit timing variations for planets c, d, and e. For planets b and f, instead, we measure significant deviations on their transit times (up to 22 and 28 min, respectively) with a non-negligible dispersion of 9.6 and 12.6 min in their time residuals. Conclusions. We confirm the presence of planet f and find no significant evidence for a potential transiting planet in a 10.9 d orbital period, as previously suggested. Further monitoring of the transits, particularly for planets b and f, would confirm the presence of the observed transit time variations. HD 108236 thus becomes a key multi-planetary system for the study of formation and evolution processes. The reported precise results on the planetary radii - together with a profuse RV monitoring - will allow for an accurate characterization of the internal structure of these planets.
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13.
  • Hudson, Lawrence N, et al. (författare)
  • The database of the PREDICTS (Projecting Responses of Ecological Diversity In Changing Terrestrial Systems) project
  • 2017
  • Ingår i: Ecology and Evolution. - : John Wiley & Sons. - 2045-7758. ; 7:1, s. 145-188
  • Tidskriftsartikel (refereegranskat)abstract
    • The PREDICTS project-Projecting Responses of Ecological Diversity In Changing Terrestrial Systems (www.predicts.org.uk)-has collated from published studies a large, reasonably representative database of comparable samples of biodiversity from multiple sites that differ in the nature or intensity of human impacts relating to land use. We have used this evidence base to develop global and regional statistical models of how local biodiversity responds to these measures. We describe and make freely available this 2016 release of the database, containing more than 3.2 million records sampled at over 26,000 locations and representing over 47,000 species. We outline how the database can help in answering a range of questions in ecology and conservation biology. To our knowledge, this is the largest and most geographically and taxonomically representative database of spatial comparisons of biodiversity that has been collated to date; it will be useful to researchers and international efforts wishing to model and understand the global status of biodiversity.
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14.
  • Kassebaum, Nicholas J., et al. (författare)
  • Global, regional, and national disability-adjusted life-years (DALYs) for 315 diseases and injuries and healthy life expectancy (HALE), 1990-2015 : a systematic analysis for the Global Burden of Disease Study 2015
  • 2016
  • Ingår i: The Lancet. - 0140-6736 .- 1474-547X. ; 388:10053, s. 1603-1658
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Healthy life expectancy (HALE) and disability-adjusted life-years (DALYs) provide summary measures of health across geographies and time that can inform assessments of epidemiological patterns and health system performance, help to prioritise investments in research and development, and monitor progress toward the Sustainable Development Goals (SDGs). We aimed to provide updated HALE and DALYs for geographies worldwide and evaluate how disease burden changes with development. Methods We used results from the Global Burden of Diseases, Injuries, and Risk Factors Study 2015 (GBD 2015) for all-cause mortality, cause-specific mortality, and non-fatal disease burden to derive HALE and DALYs by sex for 195 countries and territories from 1990 to 2015. We calculated DALYs by summing years of life lost (YLLs) and years of life lived with disability (YLDs) for each geography, age group, sex, and year. We estimated HALE using the Sullivan method, which draws from age-specific death rates and YLDs per capita. We then assessed how observed levels of DALYs and HALE differed from expected trends calculated with the Socio-demographic Index (SDI), a composite indicator constructed from measures of income per capita, average years of schooling, and total fertility rate. Findings Total global DALYs remained largely unchanged from 1990 to 2015, with decreases in communicable, neonatal, maternal, and nutritional (Group 1) disease DALYs off set by increased DALYs due to non-communicable diseases (NCDs). Much of this epidemiological transition was caused by changes in population growth and ageing, but it was accelerated by widespread improvements in SDI that also correlated strongly with the increasing importance of NCDs. Both total DALYs and age-standardised DALY rates due to most Group 1 causes significantly decreased by 2015, and although total burden climbed for the majority of NCDs, age-standardised DALY rates due to NCDs declined. Nonetheless, age-standardised DALY rates due to several high-burden NCDs (including osteoarthritis, drug use disorders, depression, diabetes, congenital birth defects, and skin, oral, and sense organ diseases) either increased or remained unchanged, leading to increases in their relative ranking in many geographies. From 2005 to 2015, HALE at birth increased by an average of 2.9 years (95% uncertainty interval 2.9-3.0) for men and 3.5 years (3.4-3.7) for women, while HALE at age 65 years improved by 0.85 years (0.78-0.92) and 1.2 years (1.1-1.3), respectively. Rising SDI was associated with consistently higher HALE and a somewhat smaller proportion of life spent with functional health loss; however, rising SDI was related to increases in total disability. Many countries and territories in central America and eastern sub-Saharan Africa had increasingly lower rates of disease burden than expected given their SDI. At the same time, a subset of geographies recorded a growing gap between observed and expected levels of DALYs, a trend driven mainly by rising burden due to war, interpersonal violence, and various NCDs. Interpretation Health is improving globally, but this means more populations are spending more time with functional health loss, an absolute expansion of morbidity. The proportion of life spent in ill health decreases somewhat with increasing SDI, a relative compression of morbidity, which supports continued efforts to elevate personal income, improve education, and limit fertility. Our analysis of DALYs and HALE and their relationship to SDI represents a robust framework on which to benchmark geography-specific health performance and SDG progress. Country-specific drivers of disease burden, particularly for causes with higher-than-expected DALYs, should inform financial and research investments, prevention efforts, health policies, and health system improvement initiatives for all countries along the development continuum.
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15.
  • Locke, Adam E, et al. (författare)
  • Genetic studies of body mass index yield new insights for obesity biology.
  • 2015
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
  • Tidskriftsartikel (refereegranskat)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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16.
  • Mahajan, Anubha, et al. (författare)
  • Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
  • 2022
  • Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 54:5, s. 560-572
  • Tidskriftsartikel (refereegranskat)abstract
    • We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls (48.9% non-European descent) through the Diabetes Meta-Analysis of Trans-Ethnic association studies (DIAMANTE) Consortium. Multi-ancestry GWAS meta-analysis identified 237 loci attaining stringent genome-wide significance (P < 5 x 10(-9)), which were delineated to 338 distinct association signals. Fine-mapping of these signals was enhanced by the increased sample size and expanded population diversity of the multi-ancestry meta-analysis, which localized 54.4% of T2D associations to a single variant with >50% posterior probability. This improved fine-mapping enabled systematic assessment of candidate causal genes and molecular mechanisms through which T2D associations are mediated, laying the foundations for functional investigations. Multi-ancestry genetic risk scores enhanced transferability of T2D prediction across diverse populations. Our study provides a step toward more effective clinical translation of T2D GWAS to improve global health for all, irrespective of genetic background. Genome-wide association and fine-mapping analyses in ancestrally diverse populations implicate candidate causal genes and mechanisms underlying type 2 diabetes. Trans-ancestry genetic risk scores enhance transferability across populations.
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17.
  • Meier Valdes, E., et al. (författare)
  • Investigating the visible phase-curve variability of 55 Cnc e
  • 2023
  • Ingår i: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 677
  • Tidskriftsartikel (refereegranskat)abstract
    • Context. 55 Cnc e is an ultra-short period super-Earth transiting a Sun-like star. Previous observations in the optical range detected a time-variable flux modulation that is phased with the planetary orbital period, whose amplitude is too large to be explained by reflected light and thermal emission alone. Aims. The goal of the study is to investigate the origin of the variability and timescale of the phase-curve modulation in 55 Cnc e. To this end, we used the CHaracterising ExOPlanet Satellite (CHEOPS), whose exquisite photometric precision provides an opportunity to characterise minute changes in the phase curve from one orbit to the next. Methods. CHEOPS observed 29 individual visits of 55 Cnc e between March 2020 and February 2022. Based on these observations, we investigated the different processes that could be at the origin of the observed modulation. In particular, we built a toy model to assess whether a circumstellar torus of dust driven by radiation pressure and gravity might match the observed flux variability timescale. Results. We find that the phase-curve amplitude and peak offset of 55 Cnc e do vary between visits. The sublimation timescales of selected dust species reveal that silicates expected in an Earth-like mantle would not survive long enough to explain the observed phase-curve modulation. We find that silicon carbide, quartz, and graphite are plausible candidates for the circumstellar torus composition because their sublimation timescales are long. Conclusions. The extensive CHEOPS observations confirm that the phase-curve amplitude and offset vary in time. We find that dust could provide the grey opacity source required to match the observations. However, the data at hand do not provide evidence that circumstellar material with a variable grain mass per unit area causes the observed variability. Future observations with the James Webb Space Telescope (JWST) promise exciting insights into this iconic super-Earth.
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18.
  • Davies, M.B., et al. (författare)
  • Glancing through the debris disk: Photometric analysis of de Boo with CHEOPS
  • 2023
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 671
  • Tidskriftsartikel (refereegranskat)abstract
    • Aims. DE Boo is a unique system, with an edge-on view through the debris disk around the star. The disk, which is analogous to the Kuiper belt in the Solar System, was reported to extend from 74 to 84 AU from the central star. The high photometric precision of the Characterising Exoplanet Satellite (CHEOPS) provided an exceptional opportunity to observe small variations in the light curve due to transiting material in the disk. This is a unique chance to investigate processes in the debris disk. Methods. Photometric observations of DE Boo of a total of four days were carried out with CHEOPS. Photometric variations due to spots on the stellar surface were subtracted from the light curves by applying a two-spot model and a fourth-order polynomial. The photometric observations were accompanied by spectroscopic measurements with the 1m RCC telescope at Piszkésteto and with the SOPHIE spectrograph in order to refine the astrophysical parameters of DE Boo. Results. We present a detailed analysis of the photometric observation of DE Boo. We report the presence of nonperiodic transient features in the residual light curves with a transit duration of 0.3-0.8 days. We calculated the maximum distance of the material responsible for these variations to be 2.47 AU from the central star, much closer than most of the mass of the debris disk. Furthermore, we report the first observation of flaring events in this system. Conclusions. We interpreted the transient features as the result of scattering in an inner debris disk around DE Boo. The processes responsible for these variations were investigated in the context of interactions between planetesimals in the system.
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19.
  • Demory, B.O., et al. (författare)
  • 55 Cancri e's occultation captured with CHEOPS
  • 2023
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 669
  • Tidskriftsartikel (refereegranskat)abstract
    • Past occultation and phase-curve observations of the ultra-short period super-Earth 55 Cnc e obtained at visible and infrared wavelengths have been challenging to reconcile with a planetary reflection and emission model. In this study, we analyse a set of 41 occultations obtained over a two-year timespan with the CHEOPS satellite. We report the detection of 55 Cnc e's occultation with an average depth of 12 ± 3 ppm. We derive a corresponding 2Ïà  upper limit on the geometric albedo of Ag < 0.55 once decontaminated from the thermal emission measured by Spitzer at 4.5 μm. CHEOPSâà €à ™ s photometric performance enables, for the first time, the detection of individual occultations of this super-Earth in the visible and identifies short-timescale photometric corrugations likely induced by stellar granulation. We also find a clear 47.3-day sinusoidal pattern in the time-dependent occultation depths that we are unable to relate to stellar noise, nor instrumental systematics, but whose planetary origin could be tested with upcoming JWST occultation observations of this iconic super-Earth.
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20.
  • Ehrenreich, D., et al. (författare)
  • A full transit of v 2 Lupi d and the search for an exomoon in its Hill sphere with CHEOPS
  • 2023
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 671
  • Tidskriftsartikel (refereegranskat)abstract
    • The planetary system around the naked-eye star v2 Lupi (HD 136352; TOI-2011) is composed of three exoplanets with masses of 4.7, 11.2, and 8.6 Earth masses (M⊕). The TESS and CHEOPS missions revealed that all three planets are transiting and have radii straddling the radius gap separating volatile-rich and volatile-poor super-earths. Only a partial transit of planet d had been covered so we re-observed an inferior conjunction of the long-period 8.6 M⊕ exoplanet v2 Lup d with the CHEOPS space telescope. We confirmed its transiting nature by covering its whole 9.1 h transit for the first time. We refined the planet transit ephemeris to P = 107.13610.0022+0.0019 days and Tc = 2459009.77590.0096+0.0101 BJDTDB, improving by ~40 times on the previously reported transit timing uncertainty. This refined ephemeris will enable further follow-up of this outstanding long-period transiting planet to search for atmospheric signatures or explore the planet s Hill sphere in search for an exomoon. In fact, the CHEOPS observations also cover the transit of a large fraction of the planet s Hill sphere, which is as large as the Earth s, opening the tantalising possibility of catching transiting exomoons. We conducted a search for exomoon signals in this single-epoch light curve but found no conclusive photometric signature of additional transiting bodies larger than Mars. Yet, only a sustained follow-up of v2 Lup d transits will warrant a comprehensive search for a moon around this outstanding exoplanet.
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21.
  • Feigin, Valery L., et al. (författare)
  • Global, regional, and national burden of neurological disorders, 1990–2016 : a systematic analysis for the Global Burden of Disease Study 2016
  • 2019
  • Ingår i: Lancet Neurology. - : Elsevier. - 1474-4422 .- 1474-4465. ; 18:5, s. 459-480
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Neurological disorders are increasingly recognised as major causes of death and disability worldwide. The aim of this analysis from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2016 is to provide the most comprehensive and up-to-date estimates of the global, regional, and national burden from neurological disorders.Methods: We estimated prevalence, incidence, deaths, and disability-adjusted life-years (DALYs; the sum of years of life lost [YLLs] and years lived with disability [YLDs]) by age and sex for 15 neurological disorder categories (tetanus, meningitis, encephalitis, stroke, brain and other CNS cancers, traumatic brain injury, spinal cord injury, Alzheimer's disease and other dementias, Parkinson's disease, multiple sclerosis, motor neuron diseases, idiopathic epilepsy, migraine, tension-type headache, and a residual category for other less common neurological disorders) in 195 countries from 1990 to 2016. DisMod-MR 2.1, a Bayesian meta-regression tool, was the main method of estimation of prevalence and incidence, and the Cause of Death Ensemble model (CODEm) was used for mortality estimation. We quantified the contribution of 84 risks and combinations of risk to the disease estimates for the 15 neurological disorder categories using the GBD comparative risk assessment approach.Findings: Globally, in 2016, neurological disorders were the leading cause of DALYs (276 million [95% UI 247–308]) and second leading cause of deaths (9·0 million [8·8–9·4]). The absolute number of deaths and DALYs from all neurological disorders combined increased (deaths by 39% [34–44] and DALYs by 15% [9–21]) whereas their age-standardised rates decreased (deaths by 28% [26–30] and DALYs by 27% [24–31]) between 1990 and 2016. The only neurological disorders that had a decrease in rates and absolute numbers of deaths and DALYs were tetanus, meningitis, and encephalitis. The four largest contributors of neurological DALYs were stroke (42·2% [38·6–46·1]), migraine (16·3% [11·7–20·8]), Alzheimer's and other dementias (10·4% [9·0–12·1]), and meningitis (7·9% [6·6–10·4]). For the combined neurological disorders, age-standardised DALY rates were significantly higher in males than in females (male-to-female ratio 1·12 [1·05–1·20]), but migraine, multiple sclerosis, and tension-type headache were more common and caused more burden in females, with male-to-female ratios of less than 0·7. The 84 risks quantified in GBD explain less than 10% of neurological disorder DALY burdens, except stroke, for which 88·8% (86·5–90·9) of DALYs are attributable to risk factors, and to a lesser extent Alzheimer's disease and other dementias (22·3% [11·8–35·1] of DALYs are risk attributable) and idiopathic epilepsy (14·1% [10·8–17·5] of DALYs are risk attributable).Interpretation: Globally, the burden of neurological disorders, as measured by the absolute number of DALYs, continues to increase. As populations are growing and ageing, and the prevalence of major disabling neurological disorders steeply increases with age, governments will face increasing demand for treatment, rehabilitation, and support services for neurological disorders. The scarcity of established modifiable risks for most of the neurological burden demonstrates that new knowledge is required to develop effective prevention and treatment strategies.Funding: Bill & Melinda Gates Foundation.
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22.
  • Kiefer, F., et al. (författare)
  • Hint of an exocomet transit in the CHEOPS light curve of HD 172555
  • 2023
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 671
  • Tidskriftsartikel (refereegranskat)abstract
    • HD 172555 is a young (∼20 Myr) A7V star surrounded by a 10 au wide debris disk suspected to be replenished partly by collisions between large planetesimals. Small evaporating transiting bodies, that is exocomets, have also been detected in this system by spectroscopy. After β Pictoris, this is another example of a system possibly witnessing a phase of the heavy bombardment of planetesimals. In such a system, small bodies trace dynamical evolution processes. We aim to constrain their dust content by using transit photometry. We performed a 2-day-long photometric monitoring of HD 172555 with the CHEOPS space telescope in order to detect shallow transits of exocomets with a typical expected duration of a few hours. The large oscillations in the light curve indicate that HD 172555 is a δ Scuti pulsating star. After removing those dominating oscillations, we found a hint of a transient absorption. If fitted with an exocomet transit model, it would correspond to an evaporating body passing near the star at a distance of 6.8±1.4R∗ (or 0.05±0.01 au) with a radius of 2.5 km. These properties are comparable to those of the exocomets already found in this system using spectroscopy, as well as those found in the β Pic system. The nuclei of the Solar System's Jupiter family comets, with radii of 2-6 km, are also comparable in size. This is the first piece of evidence of an exocomet photometric transit detection in the young system of HD 172555.
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23.
  • Krenn, A., et al. (författare)
  • The geometric albedo of the hot Jupiter HD 189733b measured with CHEOPS
  • 2023
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 672
  • Tidskriftsartikel (refereegranskat)abstract
    • Context. Measurements of the occultation of an exoplanet at visible wavelengths allow us to determine the reflective properties of a planetary atmosphere. The observed occultation depth can be translated into a geometric albedo. This in turn aids in characterising the structure and composition of an atmosphere by providing additional information on the wavelength-dependent reflective qualities of the aerosols in the atmosphere. Aims. Our aim is to provide a precise measurement of the geometric albedo of the gas giant HD 189733b by measuring the occultation depth in the broad optical bandpass of CHEOPS (350-1100 nm). Methods. We analysed 13 observations of the occultation of HD 189733b performed by CHEOPS utilising the Python package PyCHEOPS. The resulting occultation depth is then used to infer the geometric albedo accounting for the contribution of thermal emission from the planet. We also aid the analysis by refining the transit parameters combining observations made by the TESS and CHEOPS space telescopes. Results. We report the detection of an 24.7 ± 4.5 ppm occultation in the CHEOPS observations. This occultation depth corresponds to a geometric albedo of 0.076 ± 0.016. Our measurement is consistent with models assuming the atmosphere of the planet to be cloud-free at the scattering level and absorption in the CHEOPS band to be dominated by the resonant Na doublet. Taking into account previous optical-light occultation observations obtained with the Hubble Space Telescope, both measurements combined are consistent with a super-stellar Na elemental abundance in the dayside atmosphere of HD 189733b. We further constrain the planetary Bond albedo to between 0.013 and 0.42 at 3σconfidence. Conclusions. We find that the reflective properties of the HD 189733b dayside atmosphere are consistent with a cloud-free atmosphere having a super-stellar metal content. When compared to an analogous CHEOPS measurement for HD 209458b, our data hint at a slightly lower geometric albedo for HD 189733b (0.076 ± 0.016) than for HD 209458b (0.096 ± 0.016), or a higher atmospheric Na content in the same modelling framework. While our constraint on the Bond albedo is consistent with previously published values, we note that the higher-end values of ∼0.4, as derived previously from infrared phase curves, would also require peculiarly high reflectance in the infrared, which again would make it more difficult to disentangle reflected and emitted light in the total observed flux, and therefore to correctly account for reflected light in the interpretation of those phase curves. Lower reported values for the Bond albedos are less affected by this ambiguity.
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24.
  • Lango Allen, Hana, et al. (författare)
  • Hundreds of variants clustered in genomic loci and biological pathways affect human height.
  • 2010
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 467:7317, s. 832-8
  • Tidskriftsartikel (refereegranskat)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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25.
  • Nicolas, Aude, et al. (författare)
  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
  • 2018
  • Ingår i: Neuron. - : Cell Press. - 0896-6273 .- 1097-4199. ; 97:6, s. 1268-1283.e6
  • Tidskriftsartikel (refereegranskat)abstract
    • To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
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26.
  • Sulis, S., et al. (författare)
  • Connecting photometric and spectroscopic granulation signals with CHEOPS and ESPRESSO
  • 2023
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 670
  • Tidskriftsartikel (refereegranskat)abstract
    • Context. Stellar granulation generates fluctuations in photometric and spectroscopic data whose properties depend on the stellar type, composition, and evolutionary state. Characterizing granulation is key for understanding stellar atmospheres and detecting planets. Aims. We aim to detect the signatures of stellar granulation, link spectroscopic and photometric signatures of convection for main-sequence stars, and test predictions from 3D hydrodynamic models. Methods. For the first time, we observed two bright stars (Teff = 5833 and 6205 K) with high-precision observations taken simultaneously with CHEOPS and ESPRESSO. We analyzed the properties of the stellar granulation signal in each individual dataset. We compared them to Kepler observations and 3D hydrodynamic models. While isolating the granulation-induced changes by attenuating and filtering the p-mode oscillation signals, we studied the relationship between photometric and spectroscopic observables. Results. The signature of stellar granulation is detected and precisely characterized for the hotter F star in the CHEOPS and ESPRESSO observations. For the cooler G star, we obtain a clear detection in the CHEOPS dataset only. The TESS observations are blind to this stellar signal. Based on CHEOPS observations, we show that the inferred properties of stellar granulation are in agreement with both Kepler observations and hydrodynamic models. Comparing their periodograms, we observe a strong link between spectroscopic and photometric observables. Correlations of this stellar signal in the time domain (flux versus radial velocities, RV) and with specific spectroscopic observables (shape of the cross-correlation functions) are however difficult to isolate due to S/N dependent variations. Conclusions. In the context of the upcoming PLATO mission and the extreme precision RV surveys, a thorough understanding of the properties of the stellar granulation signal is needed. The CHEOPS and ESPRESSO observations pave the way for detailed analyses of this stellar process.
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27.
  • Van Grootel, V., et al. (författare)
  • A search for transiting planets around hot subdwarfs: I. Methods and performance tests on light curves from Kepler, K2, TESS, and CHEOPS
  • 2021
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 650
  • Tidskriftsartikel (refereegranskat)abstract
    • Context. Hot subdwarfs experienced strong mass loss on the red giant branch (RGB) and are now hot and small He-burning objects. These stars constitute excellent opportunities for addressing the question of the evolution of exoplanetary systems directly after the RGB phase of evolution. Aims. In this project we aim to perform a transit survey in all available light curves of hot subdwarfs from space-based telescopes (Kepler, K2, TESS, and CHEOPS) with our custom-made pipeline SHERLOCK in order to determine the occurrence rate of planets around these stars as a function of orbital period and planetary radius. We also aim to determine whether planets that were previously engulfed in the envelope of their red giant host star can survive, even partially, as a planetary remnant. Methods. For this first paper, we performed injection-and-recovery tests of synthetic transits for a selection of representative Kepler, K2, and TESS light curves to determine which transiting bodies in terms of object radius and orbital period we will be able to detect with our tools. We also provide estimates for CHEOPS data, which we analyzed with the pycheops package. Results. Transiting objects with a radius ≤ 1.0 R⊕ can be detected in most of the Kepler, K2, and CHEOPS targets for the shortest orbital periods (1 d and shorter), reaching values as low as ∼0.3 R⊕ in the best cases. Sub-Earth-sized bodies are only reached for the brightest TESS targets and for those that were observed in a significant number of sectors. We also give a series of representative results for larger planets at greater distances, which strongly depend on the target magnitude and on the length and quality of the data. Conclusions. The TESS sample will provide the most important statistics for the global aim of measuring the planet occurrence rate around hot subdwarfs. The Kepler, K2, and CHEOPS data will allow us to search for planetary remnants, that is, very close and small (possibly disintegrating) objects.
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28.
  • Willer, Cristen J., et al. (författare)
  • Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
  • 2009
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:1, s. 25-34
  • Tidskriftsartikel (refereegranskat)abstract
    • Common variants at only two loci, FTO and MC4R, have been reproducibly associated with body mass index (BMI) in humans. To identify additional loci, we conducted meta-analysis of 15 genome-wide association studies for BMI (n > 32,000) and followed up top signals in 14 additional cohorts (n > 59,000). We strongly confirm FTO and MC4R and identify six additional loci (P < 5 x 10(-8)): TMEM18, KCTD15, GNPDA2, SH2B1, MTCH2 and NEGR1 (where a 45-kb deletion polymorphism is a candidate causal variant). Several of the likely causal genes are highly expressed or known to act in the central nervous system (CNS), emphasizing, as in rare monogenic forms of obesity, the role of the CNS in predisposition to obesity.
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29.
  • Alcorn, J, et al. (författare)
  • Basic instrumentation for Hall A at Jefferson Lab
  • 2004
  • Ingår i: Nuclear Instruments & Methods in Physics Research. Section A: Accelerators, Spectrometers, Detectors, and Associated Equipment. - : Elsevier BV. - 0167-5087 .- 0168-9002. ; 522:3, s. 294-346
  • Tidskriftsartikel (refereegranskat)abstract
    • The instrumentation in Hall A at the Thomas Jefferson National Accelerator Facility was designed to study electro-and photo-induced reactions at very high luminosity and good momentum and angular resolution for at least one of the reaction products. The central components of Hall A are two identical high resolution spectrometers, which allow the vertical drift chambers in the focal plane to provide a momentum resolution of better than 2 x 10(-4). A variety of Cherenkov counters, scintillators and lead-glass calorimeters provide excellent particle identification. The facility has been operated successfully at a luminosity well in excess of 10(38) CM-2 s(-1). The research program is aimed at a variety of subjects, including nucleon structure functions, nucleon form factors and properties of the nuclear medium. (C) 2003 Elsevier B.V. All rights reserved.
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30.
  • Benz, W., et al. (författare)
  • The CHEOPS mission
  • 2021
  • Ingår i: Experimental Astronomy. - : Springer Science and Business Media LLC. - 0922-6435 .- 1572-9508. ; 51:1, s. 109-151
  • Tidskriftsartikel (refereegranskat)abstract
    • The CHaracterising ExOPlanet Satellite (CHEOPS) was selected on October 19, 2012, as the first small mission (S-mission) in the ESA Science Programme and successfully launched on December 18, 2019, as a secondary passenger on a Soyuz-Fregat rocket from Kourou, French Guiana. CHEOPS is a partnership between ESA and Switzerland with important contributions by ten additional ESA Member States. CHEOPS is the first mission dedicated to search for transits of exoplanets using ultrahigh precision photometry on bright stars already known to host planets. As a follow-up mission, CHEOPS is mainly dedicated to improving, whenever possible, existing radii measurements or provide first accurate measurements for a subset of those planets for which the mass has already been estimated from ground-based spectroscopic surveys. The expected photometric precision will also allow CHEOPS to go beyond measuring only transits and to follow phase curves or to search for exo-moons, for example. Finally, by unveiling transiting exoplanets with high potential for in-depth characterisation, CHEOPS will also provide prime targets for future instruments suited to the spectroscopic characterisation of exoplanetary atmospheres. To reach its science objectives, requirements on the photometric precision and stability have been derived for stars with magnitudes ranging from 6 to 12 in the V band. In particular, CHEOPS shall be able to detect Earth-size planets transiting G5 dwarf stars (stellar radius of 0.9R⊙) in the magnitude range 6 ≤ V ≤ 9 by achieving a photometric precision of 20 ppm in 6 hours of integration time. In the case of K-type stars (stellar radius of 0.7R⊙) of magnitude in the range 9 ≤ V ≤ 12, CHEOPS shall be able to detect transiting Neptune-size planets achieving a photometric precision of 85 ppm in 3 hours of integration time. This precision has to be maintained over continuous periods of observation for up to 48 hours. This precision and stability will be achieved by using a single, frame-transfer, back-illuminated CCD detector at the focal plane assembly of a 33.5 cm diameter, on-axis Ritchey-Chrétien telescope. The nearly 275 kg spacecraft is nadir-locked, with a pointing accuracy of about 1 arcsec rms, and will allow for at least 1 Gbit/day downlink. The sun-synchronous dusk-dawn orbit at 700 km altitude enables having the Sun permanently on the backside of the spacecraft thus minimising Earth stray light. A mission duration of 3.5 years in orbit is foreseen to enable the execution of the science programme. During this period, 20% of the observing time is available to the wider community through yearly ESA call for proposals, as well as through discretionary time approved by ESA’s Director of Science. At the time of this writing, CHEOPS commissioning has been completed and CHEOPS has been shown to fulfill all its requirements. The mission has now started the execution of its science programme.
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31.
  • Bonfanti, A., et al. (författare)
  • CHEOPS observations of the HD 108236 planetary system: A fifth planet, improved ephemerides, and planetary radii
  • 2021
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 646
  • Tidskriftsartikel (refereegranskat)abstract
    • Context. The detection of a super-Earth and three mini-Neptunes transiting the bright (V = 9.2 mag) star HD 108236 (also known as TOI-1233) was recently reported on the basis of TESS and ground-based light curves. Aims. We perform a first characterisation of the HD 108236 planetary system through high-precision CHEOPS photometry and improve the transit ephemerides and system parameters. Methods. We characterise the host star through spectroscopic analysis and derive the radius with the infrared flux method. We constrain the stellar mass and age by combining the results obtained from two sets of stellar evolutionary tracks. We analyse the available TESS light curves and one CHEOPS transit light curve for each known planet in the system. Results. We find that HD 108236 is a Sun-like star with R? = 0.877 ± 0.008 R? , M? = 0.869-0.048+0.050 M? , and an age of 6.7-5.1+4.0 Gyr. We report the serendipitous detection of an additional planet, HD 108236 f, in one of the CHEOPS light curves. For this planet, the combined analysis of the TESS and CHEOPS light curves leads to a tentative orbital period of about 29.5 days. From the light curve analysis, we obtain radii of 1.615 ± 0.051, 2.071 ± 0.052, 2.539-0.065+0.062, 3.083 ± 0.052, and 2.017-0.057+0.052 R? for planets HD 108236 b to HD 108236 f, respectively. These values are in agreement with previous TESS-based estimates, but with an improved precision of about a factor of two. We perform a stability analysis of the system, concluding that the planetary orbits most likely have eccentricities smaller than 0.1. We also employ a planetary atmospheric evolution framework to constrain the masses of the five planets, concluding that HD 108236 b and HD 108236 c should have an Earth-like density, while the outer planets should host a low mean molecular weight envelope. Conclusions. The detection of the fifth planet makes HD 108236 the third system brighter than V = 10 mag to host more than four transiting planets. The longer time span enables us to significantly improve the orbital ephemerides such that the uncertainty on the transit times will be of the order of minutes for the years to come. A comparison of the results obtained from the TESS and CHEOPS light curves indicates that for a V - 9 mag solar-like star and a transit signal of -500 ppm, one CHEOPS transit light curve ensures the same level of photometric precision as eight TESS transits combined, although this conclusion depends on the length and position of the gaps in the light curve.
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32.
  • Bourrier, V., et al. (författare)
  • A CHEOPS-enhanced view of the HD 3167 system
  • 2022
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 668
  • Tidskriftsartikel (refereegranskat)abstract
    • Much remains to be understood about the nature of exoplanets smaller than Neptune, most of which have been discovered in compact multi-planet systems. With its inner ultra-short period planet b aligned with the star and two larger outer planets d-c on polar orbits, the multi-planet system HD 3167 features a peculiar architecture and offers the possibility to investigate both dynamical and atmospheric evolution processes. To this purpose we combined multiple datasets of transit photometry and radial velocimetry (RV) to revise the properties of the system and inform models of its planets. This effort was spearheaded by CHEOPS observations of HD 3167b, which appear inconsistent with a purely rocky composition despite its extreme irradiation. Overall the precision on the planetary orbital periods are improved by an order of magnitude, and the uncertainties on the densities of the transiting planets b and c are decreased by a factor of 3. Internal structure and atmospheric simulations draw a contrasting picture between HD 3167d, likely a rocky super-Earth that lost its atmosphere through photo-evaporation, and HD 3167c, a mini-Neptune that kept a substantial primordial gaseous envelope. We detect a fourth, more massive planet on a larger orbit, likely coplanar with HD 3167d-c. Dynamical simulations indeed show that the outer planetary system d-c-e was tilted, as a whole, early in the system history, when HD 3167b was still dominated by the star influence and maintained its aligned orbit. RV data and direct imaging rule out that the companion that could be responsible for the present-day architecture is still bound to the HD 3167 system. Similar global studies of multi-planet systems will tell how many share the peculiar properties of the HD 3167 system, which remains a target of choice for follow-up observations and simulations.
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33.
  • Brandeker, Alexis, et al. (författare)
  • CHEOPS geometric albedo of the hot Jupiter HD 209458 b
  • 2022
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 659
  • Tidskriftsartikel (refereegranskat)abstract
    • We report the detection of the secondary eclipse of the hot Jupiter HD 209458 b in optical/visible light using the CHEOPS space telescope. Our measurement of 20.4+3.2-3.3 parts per million translates into a geometric albedo of Ag = 0.096 ± 0.016. The previously estimated dayside temperature of about 1500 K implies that our geometric albedo measurement consists predominantly of reflected starlight and is largely uncontaminated by thermal emission. This makes the present result one of the most robust measurements of Ag for any exoplanet. Our calculations of the bandpass-integrated geometric albedo demonstrate that the measured value of Ag is consistent with a cloud-free atmosphere, where starlight is reflected via Rayleigh scattering by hydrogen molecules, and the water and sodium abundances are consistent with stellar metallicity. We predict that the bandpass-integrated TESS geometric albedo is too faint to detect and that a phase curve of HD 209458 b observed by CHEOPS would have a distinct shape associated with Rayleigh scattering if the atmosphere is indeed cloud free.
  •  
34.
  • Haycock, Philip C., et al. (författare)
  • Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases A Mendelian Randomization Study
  • 2017
  • Ingår i: JAMA Oncology. - : American Medical Association. - 2374-2437 .- 2374-2445. ; 3:5, s. 636-651
  • Tidskriftsartikel (refereegranskat)abstract
    • IMPORTANCE: The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation. OBJECTIVE: To conduct a Mendelian randomization study, using germline genetic variants as instrumental variables, to appraise the causal relevance of telomere length for risk of cancer and non-neoplastic diseases. DATA SOURCES: Genomewide association studies (GWAS) published up to January 15, 2015. STUDY SELECTION: GWAS of noncommunicable diseases that assayed germline genetic variation and did not select cohort or control participants on the basis of preexisting diseases. Of 163 GWAS of noncommunicable diseases identified, summary data from 103 were available. DATA EXTRACTION AND SYNTHESIS: Summary association statistics for single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population. MAIN OUTCOMES AND MEASURES: Odds ratios (ORs) and 95% confidence intervals (CIs) for disease per standard deviation (SD) higher telomere length due to germline genetic variation. RESULTS: Summary data were available for 35 cancers and 48 non-neoplastic diseases, corresponding to 420 081 cases (median cases, 2526 per disease) and 1 093 105 controls (median, 6789 per disease). Increased telomere length due to germline genetic variation was generally associated with increased risk for site-specific cancers. The strongest associations (ORs [ 95% CIs] per 1-SD change in genetically increased telomere length) were observed for glioma, 5.27 (3.15-8.81); serous low-malignant-potential ovarian cancer, 4.35 (2.39-7.94); lung adenocarcinoma, 3.19 (2.40-4.22); neuroblastoma, 2.98 (1.92-4.62); bladder cancer, 2.19 (1.32-3.66); melanoma, 1.87 (1.55-2.26); testicular cancer, 1.76 (1.02-3.04); kidney cancer, 1.55 (1.08-2.23); and endometrial cancer, 1.31 (1.07-1.61). Associations were stronger for rarer cancers and at tissue sites with lower rates of stem cell division. There was generally little evidence of association between genetically increased telomere length and risk of psychiatric, autoimmune, inflammatory, diabetic, and other non-neoplastic diseases, except for coronary heart disease (OR, 0.78 [ 95% CI, 0.67-0.90]), abdominal aortic aneurysm (OR, 0.63 [ 95% CI, 0.49-0.81]), celiac disease (OR, 0.42 [ 95% CI, 0.28-0.61]) and interstitial lung disease (OR, 0.09 [ 95% CI, 0.05-0.15]). CONCLUSIONS AND RELEVANCE: It is likely that longer telomeres increase risk for several cancers but reduce risk for some non-neoplastic diseases, including cardiovascular diseases.
  •  
35.
  • Hooton, M.J., et al. (författare)
  • Spi-OPS: Spitzer and CHEOPS confirm the near-polar orbit of MASCARA-1 b and reveal a hint of dayside reflection
  • 2022
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 658
  • Tidskriftsartikel (refereegranskat)abstract
    • Context. The light curves of tidally locked hot Jupiters transiting fast-rotating, early-type stars are a rich source of information about both the planet and star, with full-phase coverage enabling a detailed atmospheric characterisation of the planet. Although it is possible to determine the true spin-orbit angle ψ-a notoriously difficult parameter to measure-from any transit asymmetry resulting from gravity darkening induced by the stellar rotation, the correlations that exist between the transit parameters have led to large disagreements in published values of ψ for some systems. Aims. We aimed to study these phenomena in the light curves of the ultra-hot Jupiter MASCARA-1 b, which is characteristically similar to well-studied contemporaries such as KELT-9 b and WASP-33 b. Methods. We obtained optical CHaracterising ExOPlanet Satellite (CHEOPS) transit and occultation light curves of MASCARA-1 b, and analysed them jointly with a Spitzer/IRAC 4.5 μm full-phase curve to model the asymmetric transits, occultations, and phase-dependent flux modulation. For the latter, we employed a novel physics-driven approach to jointly fit the phase modulation by generating a single 2D temperature map and integrating it over the two bandpasses as a function of phase to account for the differing planet-star flux contrasts. The reflected light component was modelled using the general ab initio solution for a semi-infinite atmosphere. Results. When fitting the CHEOPS and Spitzer transits together, the degeneracies are greatly diminished and return results consistent with previously published Doppler tomography. Placing priors informed by the tomography achieves even better precision, allowing a determination of ψ = 72.1-2.4+2.5 deg. From the occultations and phase variations, we derived dayside and nightside temperatures of 3062-68+66 K and 1720 ± 330 K, respectively.Our retrieval suggests that the dayside emission spectrum closely follows that of a blackbody. As the CHEOPS occultation is too deep to be attributed to blackbody flux alone, we could separately derive geometric albedo Ag = 0.171-0.068+0.066 and spherical albedo As = 0.266-0.100+0.097 from the CHEOPS data, and Bond albedoAB = 0.057-0.101+0.083 from the Spitzer phase curve.Although small, the Ag and As indicate that MASCARA-1 b is more reflective than most other ultra-hot Jupiters, where H- absorption is expected to dominate. Conclusions. Where possible, priors informed by Doppler tomography should be used when fitting transits of fast-rotating stars, though multi-colour photometry may also unlock an accurate measurement of ψ. Our approach to modelling the phase variations at different wavelengths provides a template for how to separate thermal emission from reflected light in spectrally resolved James Webb Space Telescope phase curve data.
  •  
36.
  • Kehoe, Laura, et al. (författare)
  • Make EU trade with Brazil sustainable
  • 2019
  • Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
  •  
37.
  • Lendl, M., et al. (författare)
  • The hot dayside and asymmetric transit of WASP-189 b seen by CHEOPS
  • 2020
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 643
  • Tidskriftsartikel (refereegranskat)abstract
    • The CHEOPS space mission dedicated to exoplanet follow-up was launched in December 2019, equipped with the capacity to perform photometric measurements at the 20 ppm level. As CHEOPS carries out its observations in a broad optical passband, it can provide insights into the reflected light from exoplanets and constrain the short-wavelength thermal emission for the hottest of planets by observing occultations and phase curves. Here, we report the first CHEOPS observation of an occultation, namely, that of the hot Jupiter WASP-189 b, a MP ≈ 2MJ planet orbiting an A-type star. We detected the occultation of WASP-189 b at high significance in individual measurements and derived an occultation depth of dF = 87.9 ± 4.3 ppm based on four occultations. We compared these measurements to model predictions and we find that they are consistent with an unreflective atmosphere heated to a temperature of 3435 ± 27 K, when assuming inefficient heat redistribution. Furthermore, we present two transits of WASP-189 b observed by CHEOPS. These transits have an asymmetric shape that we attribute to gravity darkening of the host star caused by its high rotation rate. We used these measurements to refine the planetary parameters, finding a ~25% deeper transit compared to the discovery paper and updating the radius of WASP-189 b to 1.619 ± 0.021RJ. We further measured the projected orbital obliquity to be λ = 86.4-4.4+2.9°, a value that is in good agreement with a previous measurement from spectroscopic observations, and derived a true obliquity of ψ = 85.4 ± 4.3°. Finally, we provide reference values for the photometric precision attained by the CHEOPS satellite: for the V = 6.6 mag star, and using a 1-h binning, we obtain a residual RMS between 10 and 17 ppm on the individual light curves, and 5.7 ppm when combining the four visits.
  •  
38.
  • Marouli, Eirini, et al. (författare)
  • Rare and low-frequency coding variants alter human adult height
  • 2017
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190
  • Tidskriftsartikel (refereegranskat)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.
  •  
39.
  • Parviainen, H., et al. (författare)
  • CHEOPS finds KELT-1b darker than expected in visible light: Discrepancy between the CHEOPS and TESS eclipse depths
  • 2022
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 668
  • Tidskriftsartikel (refereegranskat)abstract
    • Recent studies based on photometry from the Transiting Exoplanet Survey Satellite (TESS) have suggested that the dayside of KELT-1b, a strongly irradiated brown dwarf, is significantly brighter in visible light than what would be expected based on Spitzer observations in the infrared. We observed eight eclipses of KELT-1b with CHaracterising ExOPlanet Satellite (CHEOPS) to measure its dayside brightness temperature in the bluest passband observed so far, and we jointly modelled the CHEOPS photometry with the existing optical and near-infrared photometry from TESS, LBT, CFHT, and Spitzer. Our modelling has led to a self-consistent dayside spectrum for KELT-1b covering the CHEOPS, TESS, H, Ks, and Spitzer IRAC 3.6 and 4.5 μm bands, where our TESS, H, Ks, and Spitzer band estimates largely agree with the previous studies. However, we discovered a strong discrepancy between the CHEOPS and TESS bands. The CHEOPS observations yield a higher photometric precision than the TESS observations, but they do not show a significant eclipse signal, while a deep eclipse is detected in the TESS band. The derived TESS geometric albedo of 0.36-0.13+0.12 is difficult to reconcile with a CHEOPS geometric albedo that is consistent with zero because the two passbands have considerable overlap. Variability in cloud cover caused by the transport of transient nightside clouds to the dayside could provide an explanation for reconciling the TESS and CHEOPS geometric albedos, but this hypothesis needs to be tested by future observations.
  •  
40.
  • Scandariato, Gaetano, et al. (författare)
  • Phase curve and geometric albedo of WASP-43b measured with CHEOPS, TESS, and HST WFC3/UVIS
  • 2022
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 668
  • Tidskriftsartikel (refereegranskat)abstract
    • Context. Observations of the phase curves and secondary eclipses of extrasolar planets provide a window onto the composition and thermal structure of the planetary atmospheres. For example, the photometric observations of secondary eclipses lead to the measurement of the planetary geometric albedo, Ag, which is an indicator of the presence of clouds in the atmosphere. Aims. In this work, we aim to measure the Ag in the optical domain of WASP-43b, a moderately irradiated giant planet with an equilibrium temperature of ~1400 K. Methods. For this purpose, we analyzed the secondary eclipse light curves collected by CHEOPS together with TESS along with observations of the system and the publicly available photometry obtained with HST WFC3/UVIS. We also analyzed the archival infrared observations of the eclipses and retrieve the thermal emission spectrum of the planet. By extrapolating the thermal spectrum to the optical bands, we corrected for the optical eclipses for thermal emission and derived the optical Ag. Results. The fit of the optical data leads to a marginal detection of the phase-curve signal, characterized by an amplitude of 160 ± 60 ppm and 80a-? 50+60 ppm in the CHEOPS and TESS passbands, respectively, with an eastward phase shift of ~50 (1.5Ï ? detection). The analysis of the infrared data suggests a non-inverted thermal profile and solar-like metallicity. The combination of the optical and infrared analyses allows us to derive an upper limit for the optical albedo of Ag< 0.087, with a confidence of 99.9%. Conclusions. Our analysis of the atmosphere of WASP-43b places this planet in the sample of irradiated hot Jupiters, with monotonic temperature-pressure profile and no indication of condensation of reflective clouds on the planetary dayside.
  •  
41.
  • Smith, Jennifer A, et al. (författare)
  • Genome-wide association study identifies 74 loci associated with educational attainment
  • 2016
  • Ingår i: Nature (London). - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 533:7604, s. 539-542
  • Tidskriftsartikel (refereegranskat)abstract
    • Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
  •  
42.
  • Szabó, G.M., et al. (författare)
  • The changing face of AU Mic b: Stellar spots, spin-orbit commensurability, and transit timing variations as seen by CHEOPS and TESS
  • 2021
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 654
  • Tidskriftsartikel (refereegranskat)abstract
    • AU Mic is a young planetary system with a resolved debris disc showing signs of planet formation and two transiting warm Neptunes near mean-motion resonances. Here we analyse three transits of AU Mic b observed with the CHaracterising ExOPlanet Satellite (CHEOPS), supplemented with sector 1 and 27 Transiting Exoplanet Survey Satellite (TESS) photometry, and the All-Sky Automated Survey from the ground. The refined orbital period of AU Mic b is 8.462995 ± 0.000003 d, whereas the stellar rotational period is Prot = 4.8367 ± 0.0006 d. The two periods indicate a 7:4 spin-orbit commensurability at a precision of 0.1%. Therefore, all transits are observed in front of one of the four possible stellar central longitudes. This is strongly supported by the observation that the same complex star-spot pattern is seen in the second and third CHEOPS visits that were separated by four orbits (and seven stellar rotations). Using a bootstrap analysis we find that flares and star spots reduce the accuracy of transit parameters by up to 10% in the planet-to-star radius ratio and the accuracy on transit time by 3-4 min. Nevertheless, occulted stellar spot features independently confirm the presence of transit timing variations (TTVs) with an amplitude of at least 4 min. We find that the outer companion, AU Mic c, may cause the observed TTVs.
  •  
43.
  • The Seventeenth Data Release of the Sloan Digital Sky Surveys : Complete Release of MaNGA, MaStar, and APOGEE-2 Data
  • 2022
  • Ingår i: Astrophysical Journal Supplement Series. - : Institute of Physics (IOP). - 0067-0049 .- 1538-4365. ; 259:2
  • Tidskriftsartikel (refereegranskat)abstract
    • This paper documents the seventeenth data release (DR17) from the Sloan Digital Sky Surveys; the fifth and final release from the fourth phase (SDSS-IV). DR17 contains the complete release of the Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey, which reached its goal of surveying over 10,000 nearby galaxies. The complete release of the MaNGA Stellar Library accompanies this data, providing observations of almost 30,000 stars through the MaNGA instrument during bright time. DR17 also contains the complete release of the Apache Point Observatory Galactic Evolution Experiment 2 survey that publicly releases infrared spectra of over 650,000 stars. The main sample from the Extended Baryon Oscillation Spectroscopic Survey (eBOSS), as well as the subsurvey Time Domain Spectroscopic Survey data were fully released in DR16. New single-fiber optical spectroscopy released in DR17 is from the SPectroscipic IDentification of ERosita Survey subsurvey and the eBOSS-RM program. Along with the primary data sets, DR17 includes 25 new or updated value-added catalogs. This paper concludes the release of SDSS-IV survey data. SDSS continues into its fifth phase with observations already underway for the Milky Way Mapper, Local Volume Mapper, and Black Hole Mapper surveys.
  •  
44.
  • Werren, John H, et al. (författare)
  • Functional and evolutionary insights from the genomes of three parasitoid Nasonia species.
  • 2010
  • Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 327:5963, s. 343-8
  • Tidskriftsartikel (refereegranskat)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.
  •  
45.
  • Wuttke, Matthias, et al. (författare)
  • A catalog of genetic loci associated with kidney function from analyses of a million individuals
  • 2019
  • Ingår i: Nature Genetics. - : NATURE PUBLISHING GROUP. - 1061-4036 .- 1546-1718. ; 51:6, s. 957-972
  • Tidskriftsartikel (refereegranskat)abstract
    • Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
  •  
46.
  • Berndt, Sonja, I, et al. (författare)
  • Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes
  • 2022
  • Ingår i: Leukemia. - : Springer Nature. - 0887-6924 .- 1476-5551. ; 36:12, s. 2835-2844
  • Tidskriftsartikel (refereegranskat)abstract
    • Lymphoma risk is elevated for relatives with common non-Hodgkin lymphoma (NHL) subtypes, suggesting shared genetic susceptibility across subtypes. To evaluate the extent of mutual heritability among NHL subtypes and discover novel loci shared among subtypes, we analyzed data from eight genome-wide association studies within the InterLymph Consortium, including 10,629 cases and 9505 controls. We utilized Association analysis based on SubSETs (ASSET) to discover loci for subsets of NHL subtypes and evaluated shared heritability across the genome using Genome-wide Complex Trait Analysis (GCTA) and polygenic risk scores. We discovered 17 genome-wide significant loci (P < 5 × 10−8) for subsets of NHL subtypes, including a novel locus at 10q23.33 (HHEX) (P = 3.27 × 10−9). Most subset associations were driven primarily by only one subtype. Genome-wide genetic correlations between pairs of subtypes varied broadly from 0.20 to 0.86, suggesting substantial heterogeneity in the extent of shared heritability among subtypes. Polygenic risk score analyses of established loci for different lymphoid malignancies identified strong associations with some NHL subtypes (P < 5 × 10−8), but weak or null associations with others. Although our analyses suggest partially shared heritability and biological pathways, they reveal substantial heterogeneity among NHL subtypes with each having its own distinct germline genetic architecture.
  •  
47.
  • Birney, Ewan, et al. (författare)
  • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
  • 2007
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 447:7146, s. 799-816
  • Tidskriftsartikel (refereegranskat)abstract
    • We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged, including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function.
  •  
48.
  • Chirapatpimol, K, et al. (författare)
  • Precision Measurement of the p(e,e′p)π0 Reaction at Threshold
  • 2015
  • Ingår i: Physical Review Letters. - 1079-7114. ; 114:19
  • Tidskriftsartikel (refereegranskat)abstract
    • New results are reported from a measurement of π^{0} electroproduction near threshold using the p(e,e^{'}p)π^{0} reaction. The experiment was designed to determine precisely the energy dependence of s- and p-wave electromagnetic multipoles as a stringent test of the predictions of chiral perturbation theory (ChPT). The data were taken with an electron beam energy of 1192 MeV using a two-spectrometer setup in Hall A at Jefferson Lab. For the first time, complete coverage of the ϕ_{π}^{*} and θ_{π}^{*} angles in the pπ^{0} center of mass was obtained for invariant energies above threshold from 0.5 up to 15 MeV. The 4-momentum transfer Q^{2} coverage ranges from 0.05 to 0.155 (GeV/c)^{2} in fine steps. A simple phenomenological analysis of our data shows strong disagreement with p-wave predictions from ChPT for Q^{2}>0.07 (GeV/c)^{2}, while the s-wave predictions are in reasonable agreement.
  •  
49.
  • Craddock, Nick, et al. (författare)
  • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
  • 2010
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
  • Tidskriftsartikel (refereegranskat)abstract
    • Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
  •  
50.
  • Elsik, Christine G., et al. (författare)
  • The Genome Sequence of Taurine Cattle : A Window to Ruminant Biology and Evolution
  • 2009
  • Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 324:5926, s. 522-528
  • Tidskriftsartikel (refereegranskat)abstract
    • To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.
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