| 1. |
- Momozawa, Y, et al.
(författare)
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IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes
- 2018
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 9:1, s. 2427-
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Tidskriftsartikel (refereegranskat)abstract
- GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and identify 23,650 cis-eQTL. We show that these are determined by ∼9720 regulatory modules, of which ∼3000 operate in multiple tissues and ∼970 on multiple genes. We identify regulatory modules that drive the disease association for 63 of the 200 risk loci, and show that these are enriched in multigenic modules. Based on these analyses, we resequence 45 of the corresponding 100 candidate genes in 6600 Crohn disease (CD) cases and 5500 controls, and show with burden tests that they include likely causative genes. Our analyses indicate that ≥10-fold larger sample sizes will be required to demonstrate the causality of individual genes using this approach.
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| 2. |
- Bonfanti, A., et al.
(författare)
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CHEOPS observations of the HD 108236 planetary system: A fifth planet, improved ephemerides, and planetary radii
- 2021
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 646
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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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| 3. |
- Teslovich, Tanya M., et al.
(författare)
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Biological, clinical and population relevance of 95 loci for blood lipids
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 466:7307, s. 707-713
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Tidskriftsartikel (refereegranskat)abstract
- Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides are among the most important risk factors for coronary artery disease (CAD) and are targets for therapeutic intervention. We screened the genome for common variants associated with plasma lipids in >100,000 individuals of European ancestry. Here we report 95 significantly associated loci (P<5 x 10(-8)), with 59 showing genome-wide significant association with lipid traits for the first time. The newly reported associations include single nucleotide polymorphisms (SNPs) near known lipid regulators (for example, CYP7A1, NPC1L1 and SCARB1) as well as in scores of loci not previously implicated in lipoprotein metabolism. The 95 loci contribute not only to normal variation in lipid traits but also to extreme lipid phenotypes and have an impact on lipid traits in three non-European populations (East Asians, South Asians and African Americans). Our results identify several novel loci associated with plasma lipids that are also associated with CAD. Finally, we validated three of the novel genes-GALNT2, PPP1R3B and TTC39B-with experiments in mouse models. Taken together, our findings provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD.
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| 4. |
- Liu, DJ, et al.
(författare)
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Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations
- 2023
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 55:3, s. 369-
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Tidskriftsartikel (refereegranskat)abstract
- Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions encountered in medical practice. A recent landmark SCZ study of the protein-coding regions of the genome identified a causal role for ten genes and a concentration of rare variant signals in evolutionarily constrained genes1. This recent study—and most other large-scale human genetics studies—was mainly composed of individuals of European (EUR) ancestry, and the generalizability of the findings in non-EUR populations remains unclear. To address this gap, we designed a custom sequencing panel of 161 genes selected based on the current knowledge of SCZ genetics and sequenced a new cohort of 11,580 SCZ cases and 10,555 controls of diverse ancestries. Replicating earlier work, we found that cases carried a significantly higher burden of rare protein-truncating variants (PTVs) among evolutionarily constrained genes (odds ratio = 1.48; P = 5.4 × 10−6). In meta-analyses with existing datasets totaling up to 35,828 cases and 107,877 controls, this excess burden was largely consistent across five ancestral populations. Two genes (SRRM2 and AKAP11) were newly implicated as SCZ risk genes, and one gene (PCLO) was identified as shared by individuals with SCZ and those with autism. Overall, our results lend robust support to the rare allelic spectrum of the genetic architecture of SCZ being conserved across diverse human populations.
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| 5. |
- Lendl, M., et al.
(författare)
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The hot dayside and asymmetric transit of WASP-189 b seen by CHEOPS
- 2020
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 643
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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.
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| 6. |
- Benz, W., et al.
(författare)
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The CHEOPS mission
- 2021
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Ingår i: Experimental Astronomy. - : Springer Science and Business Media LLC. - 0922-6435 .- 1572-9508. ; 51:1, s. 109-151
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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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| 7. |
- Sulis, S., et al.
(författare)
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Connecting photometric and spectroscopic granulation signals with CHEOPS and ESPRESSO
- 2023
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 670
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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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| 8. |
- Demangeon, O., et al.
(författare)
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Asymmetry in the atmosphere of the ultra-hot Jupiter WASP-76 b***
- 2024
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Ingår i: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 684
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Tidskriftsartikel (refereegranskat)abstract
- Context. WASP-76 b has been a recurrent subject of study since the detection of a signature in high-resolution transit spectroscopy data indicating an asymmetry between the two limbs of the planet. The existence of this asymmetric signature has been confirmed by multiple studies, but its physical origin is still under debate. In addition, it contrasts with the absence of asymmetry reported in the infrared (IR) phase curve. Aims. We provide a more comprehensive dataset of WASP-76 b with the goal of drawing a complete view of the physical processes at work in this atmosphere. In particular, we attempt to reconcile visible high-resolution transit spectroscopy data and IR broadband phase curves. Methods. We gathered 3 phase curves, 20 occultations, and 6 transits for WASP-76 b in the visible with the CHEOPS space telescope. We also report the analysis of three unpublished sectors observed by the TESS space telescope (also in the visible), which represents 34 phase curves. Results. WASP-76 b displays an occultation of 260 ± 11 and 152 ± 10 ppm in TESS and CHEOPS bandpasses respectively. Depending on the composition assumed for the atmosphere and the data reduction used for the IR data, we derived geometric albedo estimates that range from 0.05 ± 0.023 to 0.146 ± 0.013 and from <0.13 to 0.189 ± 0.017 in the CHEOPS and TESS bandpasses, respectively. As expected from the IR phase curves, a low-order model of the phase curves does not yield any detectable asymmetry in the visible either. However, an empirical model allowing for sharper phase curve variations offers a hint of a flux excess before the occultation, with an amplitude of ∼40 ppm, an orbital offset of ∼−30◦, and a width of ∼20◦. We also constrained the orbital eccentricity of WASP-76 b to a value lower than 0.0067, with a 99.7% confidence level. This result contradicts earlier proposed scenarios aimed at explaining the asymmetry observed in high-resolution transit spectroscopy. Conclusions. In light of these findings, we hypothesise that WASP-76 b could have night-side clouds that extend predominantly towards its eastern limb. At this limb, the clouds would be associated with spherical droplets or spherically shaped aerosols of an unknown species, which would be responsible for a glory effect in the visible phase curves.
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| 9. |
- Pagano, I., et al.
(författare)
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Constraining the reflective properties of WASP-178 b using CHEOPS photometry
- 2024
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Ingår i: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 682
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Tidskriftsartikel (refereegranskat)abstract
- Context. Multiwavelength photometry of the secondary eclipses of extrasolar planets is able to disentangle the reflected and thermally emitted light radiated from the planetary dayside. Based on this, we can measure the planetary geometric albedo Ag, which is an indicator of the presence of clouds in the atmosphere, and the recirculation efficiency ϵ, which quantifies the energy transport within the atmosphere. Aims. We measure Ag and ϵ for the planet WASP-178 b, a highly irradiated giant planet with an estimated equilibrium temperature of 2450 K. Methods. We analyzed archival spectra and the light curves collected by CHEOPS and TESS to characterize the host WASP-178, refine the ephemeris of the system, and measure the eclipse depth in the passbands of the two telescopes. Results. We measured a marginally significant eclipse depth of 70 ± 40 ppm in the TESS passband, and a statistically significant depth of 70 ± 20 ppm in the CHEOPS passband. Conclusions. Combining the eclipse-depth measurement in the CHEOPS (λeff = 6300 Å) and TESS (λeff = 8000 Å) passbands, we constrained the dayside brightness temperature of WASP-178 b in the 2250-2800 K interval. The geometric albedo 0.1< Ag<0.35 generally supports the picture that giant planets are poorly reflective, while the recirculation efficiency ϵ >0.7 makes WASP-178 b an interesting laboratory for testing the current heat-recirculation models.
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| 10. |
- Tuson, A., et al.
(författare)
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TESS and CHEOPS discover two warm sub-Neptunes transiting the bright K-dwarf HD 15906
- 2023
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Ingår i: Monthly Notices of the Royal Astronomical Society. - 0035-8711 .- 1365-2966. ; 523:2, s. 3090-3118
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Tidskriftsartikel (refereegranskat)abstract
- We report the discovery of two warm sub-Neptunes transiting the bright (G = 9.5 mag) K-dwarf HD 15906 (TOI 461, TIC 4646810). This star was observed by the Transiting Exoplanet Survey Satellite (TESS) in sectors 4 and 31, revealing two small transiting planets. The inner planet, HD 15906 b, was detected with an unambiguous period but the outer planet, HD 15906 c, showed only two transits separated by ∼ 734 d, leading to 36 possible values of its period. We performed follow-up observations with the CHaracterising ExOPlanet Satellite (CHEOPS) to confirm the true period of HD 15906 c and improve the radius precision of the two planets. From TESS, CHEOPS, and additional ground-based photometry, we find that HD 15906 b has a radius of 2.24 ± 0.08 R and a period of 10.924709 ± 0.000032 d, whilst HD 15906 c has a radius of 2.93+−000607 R and a period of 21.583298+−00000055000052 d. Assuming zero bond albedo and full day-night heat redistribution, the inner and outer planet have equilibrium temperatures of 668 ± 13 K and 532 ± 10 K, respectively. The HD 15906 system has become one of only six multiplanet systems with two warm (700 K) sub-Neptune sized planets transiting a bright star (G ≤ 10 mag). It is an excellent target for detailed characterization studies to constrain the composition of sub-Neptune planets and test theories of planet formation and evolution.
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