| 11. |
- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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| 12. |
- Serrano, L. M., et al.
(författare)
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The HD 93963 A transiting system: A 1.04d super-Earth and a 3.65 d sub-Neptune discovered by TESS and CHEOPS
- 2022
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 667
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Tidskriftsartikel (refereegranskat)abstract
- We present the discovery of two small planets transiting HD 93963A (TOI-1797), a GOV star (M-* = 1.109 +/- 0.043M(circle dot), R-* = 1.043 +/- 0.009 R-circle dot) in a visual binary system. We combined TESS and CHEOPS space-borne photometry with MuSCAT 2 ground-based photometry, 'Alopeke and PHARO high-resolution imaging, TRES and FIES reconnaissance spectroscopy, and SOPHIE radial velocity measurements. We validated and spectroscopically confirmed the outer transiting planet HD 93963 A c, a sub-Neptune with an orbital period of P-c approximate to 3.65 d that was reported to be a TESS object of interest (TOI) shortly after the release of Sector 22 data. HD 93963 A c has amass of M-c = 19.2 +/- 4.1 M-circle plus and a radius of R-c = 3.228 +/- 0.059 R-circle plus, implying a mean density of rho(c) = 3.1 +/- 0.7 g cm(-3). The inner object, HD 93963 A b, is a validated 1.04 d ultra-short period (USP) transiting super-Earth that we discovered in the TESS light curve and that was not listed as a TOI, owing to the low significance of its signal (TESS signal-to-noise ratio approximate to 6.7, TESS + CHEOPS combined transit depth D-b = 141.5(-8.3)(+8.5) ppm). We intensively monitored the star with CHEOPS by performing nine transit observations to confirm the presence of the inner planet and validate the system. HD 93963 A b is the first small (R-b = 1.35 +/- 0.042 R-circle plus) USP planet discovered and validated by TESS and CHEOPS. Unlike planet c, HD 93963 Ab is not significantly detected in our radial velocities (M-b = 7.8 +/- 3.2 M-circle plus). The two planets are on either side of the radius valley, implying that they could have undergone completely different evolution processes. We also discovered a linear trend in our Doppler measurements, suggesting the possible presence of a long-period outer planet. With a V-band magnitude of 9.2, HD 93963 A is among the brightest stars known to host a USP planet, making it one of the most favourable targets for precise mass measurement via Doppler spectroscopy and an important laboratory to test formation, evolution, and migration models of planetary systems hosting ultra-short period planets.
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| 13. |
- Nielsen, L. D., et al.
(författare)
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Mass determinations of the three mini-Neptunes transiting TOI-125
- 2020
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 492:4, s. 5399-5412
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Tidskriftsartikel (refereegranskat)abstract
- The Transiting Exoplanet Survey Satellite, TESS, is currently carrying out an all-sky search for small planets transiting bright stars. In the first year of the TESS survey, a steady progress was made in achieving the mission's primary science goal of establishing bulk densities for 50 planets smaller than Neptune. During that year, the TESS's observations were focused on the southern ecliptic hemisphere, resulting in the discovery of three mini-Neptunes orbiting the star T01-125, a V = 11,0 KO dwarf. We present intensive HARPS radial velocity observations, yielding precise mass measurements for TO1-125b, TOI-125c, and TOI-125d. TOI-125b has an orbital period of 4,65 d, a radius of 2,726 + 0,075 RE, a mass of 9,50 0,88 ME, and is near the 2:1 mean motion resonance with TOI-125c at 9.15 d. TOI-125c has a similar radius of 2,759 0.10 RE and a mass of 6,63 + 0,99 ME, being the puffiest of the three planets. T01-125d has an orbital period of 19,98 d and a radius of 2.93 + 0,17 RE and mass 13,6 1,2 ME, For T01-125b and d, we find unusual high eccentricities of 0.19 0.04 and 0.17+(c):(!,(, respectively. Our analysis also provides upper mass limits for the two low-SNR planet candidates in the system; for T01-125.04 (Rp = 1.36 RE, P = 0.53 d), we find a 2a upper mass limit of 1.6 ME, whereas T01-125.05 (RP = 4.2-'2E44 RE, P = 13.28 d) is unlikely a viable planet candidate with an upper mass limit of 2.7 ME. We discuss the internal structure of the three confirmed planets, as well as dynamical stability and system architecture for this intriguing exoplanet system.
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| 14. |
- Hoyer, S., et al.
(författare)
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TOI-220b: a warm sub-Neptune discovered by TESS
- 2021
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 505:3, s. 3361-3379
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Tidskriftsartikel (refereegranskat)abstract
- In this paper, we report the discovery of TOI-220b, a new sub-Neptune detected by the Transiting Exoplanet Survey Satellite (TESS) and confirmed by radial velocity follow-up observations with the HARPS spectrograph. Based on the combined analysis of TESS transit photometry and high precision radial velocity measurements, we estimate a planetary mass of 13.8 +/- 1.0M(circle plus) and radius of 3.03 +/- 0.15R(circle plus), implying a bulk density of 2.73 +/- 0.47. TOI-220b orbits a relative bright (V=10.4) and old (10.1 +/- 1.4Gyr) K dwarf star with a period of similar to 10.69d. Thus, TOI-220b is a new warm sub-Neptune with very precise mass and radius determinations. A Bayesian analysis of the TOI-220b internal structure indicates that due to the strong irradiation it receives, the low density of this planet could be explained with a steam atmosphere in radiative-convective equilibrium and a supercritical water layer on top of a differentiated interior made of a silicate mantle and a small iron core.
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| 15. |
- Steinthorsdottir, V, et al.
(författare)
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Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women
- 2020
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 5976-
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Tidskriftsartikel (refereegranskat)abstract
- Preeclampsia is a serious complication of pregnancy, affecting both maternal and fetal health. In genome-wide association meta-analysis of European and Central Asian mothers, we identify sequence variants that associate with preeclampsia in the maternal genome at ZNF831/20q13 and FTO/16q12. These are previously established variants for blood pressure (BP) and the FTO variant has also been associated with body mass index (BMI). Further analysis of BP variants establishes that variants at MECOM/3q26, FGF5/4q21 and SH2B3/12q24 also associate with preeclampsia through the maternal genome. We further show that a polygenic risk score for hypertension associates with preeclampsia. However, comparison with gestational hypertension indicates that additional factors modify the risk of preeclampsia.
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| 16. |
- Sumaila, U. Rashid, et al.
(författare)
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WTO must ban harmful fisheries subsidies
- 2021
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 374:6567, s. 544-544
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 17. |
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| 18. |
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| 19. |
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| 20. |
- Rofors, E., et al.
(författare)
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Response of a Li-glass/multi-anode photomultiplier detector to collimated thermal-neutron beams
- 2021
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Ingår i: Nuclear Instruments and Methods in Physics Research, Section A: Accelerators, Spectrometers, Detectors and Associated Equipment. - : Elsevier BV. - 0168-9002. ; 999
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Tidskriftsartikel (refereegranskat)abstract
- The response of a position-sensitive Li-glass scintillator detector being developed for thermal-neutron detection with 6 mm position resolution has been investigated using collimated beams of thermal neutrons. The detector was moved perpendicularly through the neutron beams in 0.5 to 1.0 mm horizontal and vertical steps. Scintillation was detected in an 8 × 8 pixel multi-anode photomultiplier tube on an event-by-event basis. In general, several pixels registered large signals at each neutron-beam location. The number of pixels registering signal above a set threshold was investigated, with the maximization of the single-hit efficiency over the largest possible area of the detector as the primary goal. At a threshold of ∼50% of the mean of the full-deposition peak, ∼80% of the events were registered in a single pixel, resulting in an effective position resolution of ∼5 mm in X and Y. Lower thresholds generally resulted in events demonstrating higher pixel multiplicities, but these events could also be localized with ∼5 mm position resolution.
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