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- 2019
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Journal article (peer-reviewed)
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| 3. |
- Abdalla, E., et al.
(author)
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Cosmology intertwined : A review of the particle physics, astrophysics, and cosmology associated with the cosmological tensions and anomalies
- 2022
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In: Journal of High Energy Astrophysics. - : Elsevier BV. - 2214-4048 .- 2214-4056. ; 34, s. 49-211
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Journal article (peer-reviewed)abstract
- The standard Λ Cold Dark Matter (ΛCDM) cosmological model provides a good description of a wide range of astrophysical and cosmological data. However, there are a few big open questions that make the standard model look like an approximation to a more realistic scenario yet to be found. In this paper, we list a few important goals that need to be addressed in the next decade, taking into account the current discordances between the different cosmological probes, such as the disagreement in the value of the Hubble constant H0, the σ8–S8 tension, and other less statistically significant anomalies. While these discordances can still be in part the result of systematic errors, their persistence after several years of accurate analysis strongly hints at cracks in the standard cosmological scenario and the necessity for new physics or generalisations beyond the standard model. In this paper, we focus on the 5.0σ tension between the Planck CMB estimate of the Hubble constant H0 and the SH0ES collaboration measurements. After showing the H0 evaluations made from different teams using different methods and geometric calibrations, we list a few interesting new physics models that could alleviate this tension and discuss how the next decade's experiments will be crucial. Moreover, we focus on the tension of the Planck CMB data with weak lensing measurements and redshift surveys, about the value of the matter energy density Ωm, and the amplitude or rate of the growth of structure (σ8,fσ8). We list a few interesting models proposed for alleviating this tension, and we discuss the importance of trying to fit a full array of data with a single model and not just one parameter at a time. Additionally, we present a wide range of other less discussed anomalies at a statistical significance level lower than the H0–S8 tensions which may also constitute hints towards new physics, and we discuss possible generic theoretical approaches that can collectively explain the non-standard nature of these signals. Finally, we give an overview of upgraded experiments and next-generation space missions and facilities on Earth that will be of crucial importance to address all these open questions.
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| 4. |
- Butler-Laporte, G, et al.
(author)
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Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
- 2022
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In: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404 .- 1553-7390. ; 18:11, s. e1010367-
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Journal article (peer-reviewed)abstract
- Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants with the largest impact on COVID-19 outcomes are expected to be rare in the population. Hence, studying rare variants may provide additional insights into disease susceptibility and pathogenesis, thereby informing therapeutics development. Here, we combined whole-exome and whole-genome sequencing from 21 cohorts across 12 countries and performed rare variant exome-wide burden analyses for COVID-19 outcomes. In an analysis of 5,085 severe disease cases and 571,737 controls, we observed that carrying a rare deleterious variant in the SARS-CoV-2 sensor toll-like receptor TLR7 (on chromosome X) was associated with a 5.3-fold increase in severe disease (95% CI: 2.75–10.05, p = 5.41x10-7). This association was consistent across sexes. These results further support TLR7 as a genetic determinant of severe disease and suggest that larger studies on rare variants influencing COVID-19 outcomes could provide additional insights.
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| 5. |
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| 6. |
- Botticella, M. T., et al.
(author)
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Supernova 2009kf : An Ultraviolet Bright Type IIP Supernova Discovered with Pan-STARRS 1 and GALEX
- 2010
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In: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 717, s. L52-L56
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Journal article (peer-reviewed)abstract
- We present photometric and spectroscopic observations of a luminous Type IIP Supernova (SN) 2009kf discovered by the Pan-STARRS 1 (PS1) survey and also detected by the Galaxy Evolution Explorer. The SN shows a plateau in its optical and bolometric light curves, lasting approximately 70 days in the rest frame, with an absolute magnitude of M V = -18.4 mag. The P-Cygni profiles of hydrogen indicate expansion velocities of 9000 km s-1 at 61 days after discovery which is extremely high for a Type IIP SN. SN 2009kf is also remarkably bright in the near-ultraviolet (NUV) and shows a slow evolution 10-20 days after optical discovery. The NUV and optical luminosity at these epochs can be modeled with a blackbody with a hot effective temperature (T ~ 16,000 K) and a large radius (R ~ 1 × 1015 cm). The bright bolometric and NUV luminosity, the light curve peak and plateau duration, the high velocities, and temperatures suggest that 2009kf is a Type IIP SN powered by a larger than normal explosion energy. Recently discovered high-z SNe (0.7 < z < 2.3) have been assumed to be IIn SNe, with the bright UV luminosities due to the interaction of SN ejecta with a dense circumstellar medium. UV-bright SNe similar to SN 2009kf could also account for these high-z events, and its absolute magnitude M NUV = -21.5 ± 0.5 mag suggests such SNe could be discovered out to z ~ 2.5 in the PS1 survey.
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| 7. |
- Souche, E, et al.
(author)
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Recommendations for whole genome sequencing in diagnostics for rare diseases
- 2022
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In: European journal of human genetics : EJHG. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 30:109, s. 1017-1021
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Journal article (peer-reviewed)abstract
- In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting. These guidelines mainly focused on Whole Exome Sequencing (WES) and targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) and insertions/deletions (indels)). Since then, Whole Genome Sequencing (WGS) has been increasingly introduced in the diagnosis of rare diseases as WGS allows the simultaneous detection of SNVs, Structural Variants (SVs) and other types of variants such as repeat expansions. The use of WGS in diagnostics warrants the re-evaluation and update of previously published guidelines. This work was jointly initiated by EuroGentest and the Horizon2020 project Solve-RD. Statements from the 2016 guidelines have been reviewed in the context of WGS and updated where necessary. The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and (non-)geneticists, to provide technical advice, aid clinical decision-making and the reporting of the results.
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| 8. |
- Aarestrup, FM, et al.
(author)
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Towards a European health research and innovation cloud (HRIC)
- 2020
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In: Genome medicine. - : Springer Science and Business Media LLC. - 1756-994X. ; 12:1, s. 18-
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Journal article (peer-reviewed)abstract
- The European Union (EU) initiative on the Digital Transformation of Health and Care (Digicare) aims to provide the conditions necessary for building a secure, flexible, and decentralized digital health infrastructure. Creating a European Health Research and Innovation Cloud (HRIC) within this environment should enable data sharing and analysis for health research across the EU, in compliance with data protection legislation while preserving the full trust of the participants. Such a HRIC should learn from and build on existing data infrastructures, integrate best practices, and focus on the concrete needs of the community in terms of technologies, governance, management, regulation, and ethics requirements. Here, we describe the vision and expected benefits of digital data sharing in health research activities and present a roadmap that fosters the opportunities while answering the challenges of implementing a HRIC. For this, we put forward five specific recommendations and action points to ensure that a European HRIC: i) is built on established standards and guidelines, providing cloud technologies through an open and decentralized infrastructure; ii) is developed and certified to the highest standards of interoperability and data security that can be trusted by all stakeholders; iii) is supported by a robust ethical and legal framework that is compliant with the EU General Data Protection Regulation (GDPR); iv) establishes a proper environment for the training of new generations of data and medical scientists; and v) stimulates research and innovation in transnational collaborations through public and private initiatives and partnerships funded by the EU through Horizon 2020 and Horizon Europe.
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| 9. |
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| 10. |
- Huffman, JE, et al.
(author)
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Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF
- 2015
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In: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 126:11, s. E19-E29
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Journal article (peer-reviewed)abstract
- Twelve independent, novel, low-frequency (n = 2) and rare (n = 10) genetic variants were associated with fibrinogen, FVII, FVIII, or vWF. Nine were within previously associated genes, and 3 novel candidate genes (KCNT1, HID1, and KATNB1) were confined to cohorts of African ancestry.
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| 11. |
- Lampeitl, H., et al.
(author)
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First-year Sloan Digital Sky Survey-II supernova results : consistency and constraints with other intermediate-redshift data sets
- 2010
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In: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 401:4, s. 2331-2342
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Journal article (peer-reviewed)abstract
- We present an analysis of the luminosity distances of Type Ia Supernovae (SNe) from the Sloan Digital Sky Survey-II (SDSS-II) SN Survey in conjunction with other intermediate-redshift (z < 0.4) cosmological measurements including redshift-space distortions from the Two-Degree Field Galaxy Redshift Survey (2dFGRS), the integrated Sachs–Wolfe (ISW) effect seen by the SDSS and the latest baryon acoustic oscillation (BAO) distance scale from both the SDSS and 2dFGRS. We have analysed the SDSS-II SN data alone using a variety of ‘model-independent’ methods and find evidence for an accelerating Universe at a >97 per cent level from this single data set. We find good agreement between the SN and BAO distance measurements, both consistent with a Λ-dominated cold dark matter cosmology, as demonstrated through an analysis of the distance duality relationship between the luminosity (dL) and angular diameter (dA) distance measures. We then use these data to estimate w within this restricted redshift range (z < 0.4). Our most stringent result comes from the combination of all our intermediate-redshift data (SDSS-II SNe, BAO, ISW and redshift-space distortions), giving w=−0.81+0.16−0.18 (stat) ± 0.15 (sys) and ΩM= 0.22+0.09−0.08 assuming a flat universe. This value of w and associated errors only change slightly if curvature is allowed to vary, consistent with constraints from the cosmic microwave background. We also consider more limited combinations of the geometrical (SN, BAO) and dynamical (ISW, redshift-space distortions) probes.
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| 12. |
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| 13. |
- Behrendt, C. A., et al.
(author)
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International Variations in Amputation Practice: A VASCUNET Report
- 2018
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In: European Journal of Vascular and Endovascular Surgery. - : Elsevier BV. - 1078-5884 .- 1532-2165. ; 56:3, s. 391-399
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Journal article (peer-reviewed)abstract
- Objectives: To study international differences in incidence and practice patterns as well as time trends in lower limb amputations related to peripheral arterial disease and/or diabetes mellitus. Methods: Data on lower limb amputations during 2010-2014 were collected from population based administrative data from countries in Europe and Australasia participating in the VASCUNET collaboration. Amputation rates, time trends, in hospital or 30 day mortality and reimbursement systems were analysed. Results: Data from 12 countries covering 259 million inhabitants in 2014 were included. Individuals aged >= 65 years ranged from 12.9% (Slovakia) to 20.7% (Germany) and diabetes prevalence among amputees from 25.7% (Finland) to 74.3% (Slovakia). The mean incidence of major amputation varied between 7.2/100,000 (New Zealand) and 41.4/100,000 (Hungary), with an overall declining time trend with the exception of Slovakia, while minor amputations increased over time. The older age group (>= 65 years) was up to 4.9 times more likely to be amputated compared with those younger than 65 years. Reported mortality rates were lowest in Finland (6.3%) and highest in Hungary (20.3%). Countries with a fee for service reimbursement system had a lower incidence of major amputation compared with countries with a population based reimbursement system (14.3/100,000 versus 18.4/100,000, respectively, p < .001). Conclusions: This international audit showed large geographical differences in major amputation rates, by a factor of almost six, and an overall declining time trend during the 4 year observation of this study. Diabetes prevalence, age distribution, and mortality rates were also found to vary between countries. Despite limitations attributable to registry data, these findings are important, and warrant further research on how to improve limb salvage in different demographic settings. (C) 2018 European Society for Vascular Surgery. Published by Elsevier B.V. All rights reserved.
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| 14. |
- Betoule, M., et al.
(author)
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Improved cosmological constraints from a joint analysis of the SDSS-II and SNLS supernova samples
- 2014
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In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 568, s. A22-
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Journal article (peer-reviewed)abstract
- Aims. We present cosmological constraints from a joint analysis of type la supernova (SN Ia) observations obtained by the SDSS-II and SNLS collaborations. The dataset includes several low-redshift samples (z < 0.1), all three seasons from the SDSS-11 (0.05 < z < 0.4), and three years from SNLS (0.2 < z < 1), and it totals 740 spectroscopically confirmed type la supernovae with high quality light curves. Methods. We followed the methods and assumptions of the SNLS three-year data analysis except for the following important improvements: I) the addition of the full SDSS-II spectroscopically-confirmed SN la sample in both the training of the SALT2 light-curve model and in the Hubble diagram analysis (374 SNe); 2) intercalibration of the SNLS and SDSS surveys and reduced systematic uncertainties in the photometric calibration, performed blindly with respect to the cosmology analysis; and 3) a thorough investigation of systematic errors associated with the SALT2 modeling of SN la light curves. Results. We produce recalibrated SN la light curves and associated distances for the SDSS-II and SNLS samples. The large SOSS-II sample provides an effective, independent, low -z anchor for the Hubble diagram and reduces the systematic error from calibration systematics in the low -z SN sample. For a flat ACDM cosmology, we find Omega(m), = 0.295 0.034 (stat+sys), a value consistent with the most recent cosmic microwave background (CMB) measurement from the Planck and WMAP experiments. Our result is 1.8 sigma (stat+sys) different than the previously published result of SNLS three-year data. The change is due primarily to improvements in the SNLS photometric calibration. When combined with CMB constraints, we measure a constant dark energy equation of state parameter omega = -1.018 +/- 0,057 (sral+sys) for a fiat universe. Adding baryon acoustic oscillation distance measurements gives similar constraints: omega = 59 -1.027 0.055. Our supernova measurements provide the most stringent constraints to date on the nature of dark energy.
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| 16. |
- Bode, Felix J., et al.
(author)
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Sex differences in a transgenic rat model of Huntington's disease: decreased 17 beta-estradiol levels correlate with reduced numbers of DARPP32(+) neurons in males
- 2008
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 17:17, s. 2595-2609
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Journal article (peer-reviewed)abstract
- Recent clinical studies have highlighted that female sex hormones represent potential neuroprotective mediators against damage caused by acute and chronic brain diseases. This evidence has been confirmed by experimental studies documenting the protective role of female sex hormones both in vitro and in vivo, although these studies did not specifically focus on Huntington's disease (HD). We therefore investigated the onset and course of HD in female and male transgenic (tg) HD (CAG(n51)) and control rats across age and focused on three aspects: (i) behavioral and physiological alterations (energy expenditure, home-cage activity, emotional disturbance and motor dysfunction), (ii) morphological markers (numbers and characteristics of striatal DARPP32(+) medium-sized spiny neurons (MSNs) and dopamine receptor autoradiography) and (iii) peripheral sex hormone levels as well as striatal estrogen receptor expression. Independent of their sex, tgHD rats exhibited increased levels of food intake, elevated home-cage activity scores and anxiolytic-like behavior, whereas only males showed an impairment of motor function. In line with the latter finding, loss and atrophy of DARPP32(+) MSNs were apparent only in male tgHD rats. This result was associated with a decreased striatal dopamine D1 receptor density and lower plasma levels of 17 beta-estradiol at the age of 14 months. As DARPP32(+) MSNs expressed both alpha-and beta-estrogen receptors and showed a correlation between cell numbers and 17 beta-estradiol levels, our findings suggest sex-related differences in the HD phenotype pointing to a substantial neuroprotective effect of sex hormones and opening new perspectives on the therapy of HD.
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| 17. |
- Castro-Tirado, A. J., et al.
(author)
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GRB 030227 : The first multiwavelength afterglow of an INTEGRAL GRB
- 2003
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In: Astronomy & Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 411:1, s. 315-319
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Journal article (peer-reviewed)abstract
- We present multiwavelength observations of a gamma-ray burst detected byINTEGRAL (GRB 030227) between 5.3 hours and ~ 1.7days after the event. Here we report the discovery of a dim opticalafterglow (OA) that would not have been detected by many previoussearches due to its faintess (R ~ 23). This OA was seen to declinefollowing a power law decay with index alpha R = -0.95 +/-0.16. The spectral index beta_ opt/NIR yielded -1.25 +/- 0.14. Thesevalues may be explained by a relativistic expansion of a fireball (withp = 2.0) in the cooling regime. We also find evidence for inverseCompton scattering in X-rays.Based on observations with INTEGRAL, an ESA project with instruments andscience data centre funded by ESA member states (especially the PIcountries: Denmark, France, Germany, Italy, Switzerland, Spain), CzechRepublic and Poland, and with the participation of Russia and the USA.Also partially based on observations collected by the Gamma-Ray BurstCollaboration at ESO (GRACE) at the European Southern Observatory, Chile(ESO Large Programme 165.H-0464).
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| 18. |
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| 19. |
- Lunnan, Ragnhild, et al.
(author)
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Hydrogen-poor Superluminous Supernovae from the Pan-STARRS1 Medium Deep Survey
- 2018
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In: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 852:2
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Journal article (peer-reviewed)abstract
- We present light curves and classification spectra of 17 hydrogen-poor superluminous supernovae (SLSNe) from the Pan-STARRS1 Medium Deep Survey (PS1 MDS). Our sample contains all objects from the PS1. MDS sample with spectroscopic classification that are similar to either of the prototypes SN 2005ap or SN 2007bi, without an explicit limit on luminosity. With a redshift range 0.3 < z < 1.6, PS1. MDS is the first SLSN sample primarily probing the high-redshift population; our multifilter PS1 light curves probe the rest-frame UV emission, and hence the peak of the spectral energy distribution. We measure the temperature evolution and construct bolometric light curves, and find peak luminosities of (0.5-5) x 10(44) erg s(-1) and lower limits on the total radiated energies of (0.3-2) x 10(51) erg. The light curve shapes are diverse, with both rise and decline times spanning a factor of similar to 5 and several examples of double-peaked light curves. When correcting for the flux-limited nature of our survey, we find a median peak luminosity at 4000 angstrom of M-4000 = -21.1 mag and a spread of sigma = 0.7 mag.
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| 20. |
- Morison, LD, et al.
(author)
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In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
- 2023
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In: Journal of medical genetics. - : BMJ. - 1468-6244 .- 0022-2593. ; 60:6, s. 597-607
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Journal article (peer-reviewed)abstract
- Heterozygous disruptions ofFOXP2were the first identified molecular cause for severe speech disorder: childhood apraxia of speech (CAS), and yet few cases have been reported, limiting knowledge of the condition.MethodsHere we phenotyped 28 individuals from 17 families with pathogenicFOXP2-only variants (12 loss-of-function, five missense variants; 14 males; aged 2 to 62 years). Health and development (cognitive, motor, social domains) were examined, including speech and language outcomes with the first cross-linguistic analysis of English and German.ResultsSpeech disorders were prevalent (23/25, 92%) and CAS was most common (22/25, 88%), with similar speech presentations across English and German. Speech was still impaired in adulthood, and some speech sounds (eg, ‘th’, ‘r’, ‘ch’, ‘j’) were never acquired. Language impairments (21/25, 84%) ranged from mild to severe. Comorbidities included feeding difficulties in infancy (10/26, 38%), fine (13/26, 50%) and gross (13/26, 50%) motor impairment, anxiety (5/27, 19%), depression (6/27, 22%) and sleep disturbance (10/24, 42%). Physical features were common (22/27, 81%) but with no consistent pattern. Cognition ranged from average to mildly impaired and was incongruent with language ability; for example, seven participants with severe language disorder had average non-verbal cognition.ConclusionsAlthough we identify an increased prevalence of conditions like anxiety, depression and sleep disturbance, we confirm that the consequences ofFOXP2dysfunction remain relatively specific to speech disorder, as compared with other recently identified monogenic conditions associated with CAS. Thus, our findings reinforce thatFOXP2provides a valuable entry point for examining the neurobiological bases of speech disorder.
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| 21. |
- Nicholl, M., et al.
(author)
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Slowly fading super-luminous supernovae that are not pair-instability explosions
- 2013
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 502:7471, s. 346-
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Journal article (peer-reviewed)abstract
- Super-luminous supernovae(1-4) that radiate more than 1044 ergs per second at their peak luminosity have recently been discovered in faint galaxies at redshifts of 0.1-4. Some evolve slowly, resembling models of 'pair-instability' supernovae(5,6). Such models involve stars with original masses 140-260 times that of the Sun that now have carbon-oxygen cores of 65-130 solar masses. In these stars, the photons that prevent gravitational collapse are converted to electron-positron pairs, causing rapid contraction and thermonuclear explosions. Many solar masses of Ni-56 are synthesized; this isotope decays to Fe-56 via Co-56, powering bright light curves(7,8). Such massive progenitors are expected to have formed from metal-poor gas in the early Universe(9). Recently, supernova 2007bi in a galaxy at redshift 0.127 (about 12 billion years after the Big Bang) with a metallicity one-third that of the Sun was observed to look like a fading pair-instability supernova(1,10). Here we report observations of two slow-to-fade super-luminous supernovae that show relatively fast rise times and blue colours, which are incompatible with pair-instability models. Their late-time light-curve and spectral similarities to supernova 2007bi call the nature of that event into question. Our early spectra closely resemble typical fast-declining super-luminous supernovae(2,11,12), which are not powered by radio-activity. Modelling our observations with 10-16 solar masses of magnetar-energized(13,14) ejecta demonstrates the possibility of a common explosion mechanism. The lack of unambiguous nearby pair-instability events suggests that their local rate of occurrence is less than 6 x 10(-6) times that of the core-collapse rate.
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| 27. |
- Wang, Xiaofeng, et al.
(author)
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Evidence for type ia supernova diversity from ultraviolet observations with the hubble space telescope
- 2012
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In: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 749:2, s. 126-
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Journal article (peer-reviewed)abstract
- We present ultraviolet (UV) spectroscopy and photometry of four Type Ia supernovae (SNe 2004dt, 2004ef, 2005M, and 2005cf) obtained with the UV prism of the Advanced Camera for Surveys on the Hubble Space Telescope. This data set provides unique spectral time series down to 2000 angstrom. Significant diversity is seen in the near-maximum-light spectra (similar to 2000-3500 angstrom) for this small sample. The corresponding photometric data, together with archival data from Swift Ultraviolet/Optical Telescope observations, provide further evidence of increased dispersion in the UV emission with respect to the optical. The peak luminositiesmeasured in the uvw1/F250W filter are found to correlate with the B-band light-curve shape parameter Delta m(15)(B), but with much larger scatter relative to the correlation in the broadband B band (e.g., similar to 0.4 mag versus similar to 0.2 mag for those with 0.8 mag < Delta m(15)(B) < 1.7 mag). SN 2004dt is found as an outlier of this correlation (at > 3 sigma), being brighter than normal SNe Ia such as SN 2005cf by similar to 0.9 mag and similar to 2.0 mag in the uvw1/F250W and uvm2/F220W filters, respectively. We show that different progenitor metallicity or line-expansion velocities alone cannot explain such a large discrepancy. Viewing-angle effects, such as due to an asymmetric explosion, may have a significant influence on the flux emitted in the UV region. Detailed modeling is needed to disentangle and quantify the above effects.
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