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| 6. |
- Thompson, B.A., et al.
(författare)
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
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Tidskriftsartikel (refereegranskat)abstract
- The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
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| 9. |
- Johnatty, S. E., et al.
(författare)
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No evidence that GATA3 rs570613 SNP modifies breast cancer risk
- 2009
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Ingår i: Breast Cancer Research and Treatment. - : Springer. - 0167-6806 .- 1573-7217. ; 117:2, s. 371-379
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Tidskriftsartikel (refereegranskat)abstract
- GATA-binding protein 3 (GATA3) is a transcription factor that is crucial to mammary gland morphogenesis and differentiation of progenitor cells, and has been suggested to have a tumor suppressor function. The rs570613 single nucleotide polymorphism (SNP) in intron 4 of GATA3 was previously found to be associated with a reduction in breast cancer risk in the Cancer Genetic Markers of Susceptibility project and in pooled analysis of two case-control studies from Norway and Poland (P trend = 0.004), with some evidence for a stronger association with estrogen receptor (ER) negative tumours [Garcia-Closas M et al. (2007) Cancer Epidemiol Biomarkers Prev 16:2269-2275]. We genotyped GATA3 rs570613 in 6,388 cases and 4,995 controls from the Breast Cancer Association Consortium (BCAC) and 5,617 BRCA1 and BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). We found no association between this SNP and breast cancer risk in BCAC cases overall (ORper-allele = 1.00, 95% CI 0.94-1.05), in ER negative BCAC cases (ORper-allele = 1.02, 95% CI 0.91-1.13), in BRCA1 mutation carriers RRper-allele = 0.99, 95% CI 0.90-1.09) or BRCA2 mutation carriers (RRper-allele = 0.93, 95% CI 0.80-1.07). We conclude that there is no evidence that either GATA3 rs570613, or any variant in strong linkage disequilibrium with it, is associated with breast cancer risk in women.
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- Clerbaux, C., et al.
(författare)
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CO measurements from the ACE-FTS satellite instrument: data analysis and validation using ground-based, airborne and spaceborne observations
- 2008
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Ingår i: Atmospheric Chemistry and Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 8, s. 2569-2594
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Tidskriftsartikel (refereegranskat)abstract
- The Atmospheric Chemistry Experiment (ACE) mission was launched in August 2003 to sound the atmosphere by solar occultation. Carbon monoxide (CO), a good tracer of pollution plumes and atmospheric dynamics, is one of the key species provided by the primary instrument, the ACE-Fourier Transform Spectrometer (ACE-FTS). This instrument performs measurements in both the CO 1-0 and 2-0 ro-vibrational bands, from which vertically resolved CO concentration profiles are retrieved, from the mid-troposphere to the thermosphere. This paper presents an updated description of the ACE-FTS version 2.2 CO data product, along with a comprehensive validation of these profiles using available observations (February 2004 to December 2006). We have compared the CO partial columns with ground-based measurements using Fourier transform infrared spectroscopy and millimeter wave radiometry, and the volume mixing ratio profiles with airborne (both high-altitude balloon flight and airplane) observations. CO satellite observations provided by nadir-looking instruments (MOPITT and TES) as well as limb-viewing remote sensors (MIPAS, SMR and MLS) were also compared with the ACE-FTS CO products. We show that the ACE-FTS measurements provide CO profiles with small retrieval errors (better than 5% from the upper troposphere to 40 km, and better than 10% above). These observations agree well with the correlative measurements, considering the rather loose coincidence criteria in some cases. Based on the validation exercise we assess the following uncertainties to the ACE-FTS measurement data: better than 15% in the upper troposphere (8–12 km), than 30% in the lower stratosphere (12–30 km), and than 25% from 30 to 100 km.
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- Kirchhoff, Tomas, et al.
(författare)
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Breast cancer risk and 6q22.33 : combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
- 2012
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Ingår i: PLOS ONE. - : Public library of science. - 1932-6203. ; 7:6
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Tidskriftsartikel (refereegranskat)abstract
- Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
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| 14. |
- Trotignon, J. G., et al.
(författare)
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RPC-MIP : The mutual impedance probe of the Rosetta Plasma Consortium
- 2007
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Ingår i: Space Science Reviews. - : Springer Science and Business Media LLC. - 0038-6308 .- 1572-9672. ; 128:1-4, s. 713-728
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Forskningsöversikt (refereegranskat)abstract
- The main objective of the Mutual Impedance Probe (MIP), part of the Rosetta Plasma Consortium (RPC), is to measure the electron density and temperature of Comet 67P/Churyumov-Gerasimenko's coma, in particular inside the contact surface. Furthermore, MIP will determine the bulk velocity of the ionised outflowing atmosphere, define the spectral distribution of natural plasma waves, and monitor dust and gas activities around the nucleus. The MIP instrumentation consists of an electronics board for signal processing in the 7 kHz to 3.5 MHz range and a sensor unit of two receiving and two transmitting electrodes mounted on a 1-m long bar. In addition, the Langmuir probe of the RPC/LAP instrument that is at about 4 m from the MIP sensor can be used as a transmitter (in place of the MIP ones) and MIP as a receiver in order to have access to the density and temperature of plasmas at higher Debye lengths than those for which the MIP is originally designed.
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| 15. |
- Cronin, M. F., et al.
(författare)
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Developing an Observing Air-Sea Interactions Strategy (OASIS) for the global ocean
- 2022
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Ingår i: Ices Journal of Marine Science. - : Oxford University Press (OUP). - 1054-3139 .- 1095-9289. ; 80:2, s. 367-73
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Tidskriftsartikel (refereegranskat)abstract
- The Observing Air-Sea Interactions Strategy (OASIS) is a new United Nations Decade of Ocean Science for Sustainable Development programme working to develop a practical, integrated approach for observing air-sea interactions globally for improved Earth system (including ecosystem) forecasts, CO2 uptake assessments called for by the Paris Agreement, and invaluable surface ocean information for decision makers. Our "Theory of Change" relies upon leveraged multi-disciplinary activities, partnerships, and capacity strengthening. Recommendations from >40 OceanObs'19 community papers and a series of workshops have been consolidated into three interlinked Grand Ideas for creating #1: a globally distributed network of mobile air-sea observing platforms built around an expanded array of long-term time-series stations; #2: a satellite network, with high spatial and temporal resolution, optimized for measuring air-sea fluxes; and #3: improved representation of air-sea coupling in a hierarchy of Earth system models. OASIS activities are organized across five Theme Teams: (1) Observing Network Design & Model Improvement; (2) Partnership & Capacity Strengthening; (3) UN Decade OASIS Actions; (4) Best Practices & Interoperability Experiments; and (5) Findable-Accessible-Interoperable-Reusable (FAIR) models, data, and OASIS products. Stakeholders, including researchers, are actively recruited to participate in Theme Teams to help promote a predicted, safe, clean, healthy, resilient, and productive ocean.
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| 16. |
- Lossow, S., et al.
(författare)
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The SPARC water vapour assessment II: comparison of annual, semi-annual and quasi-biennial variations in stratospheric and lower mesospheric water vapour observed from satellites
- 2017
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Ingår i: Atmospheric Measurement Techniques. - : Copernicus GmbH. - 1867-1381 .- 1867-8548. ; 10:3, s. 1111-1137
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Tidskriftsartikel (refereegranskat)abstract
- In the framework of the second SPARC (Stratosphere-troposphere Processes And their Role in Climate) water vapour assessment (WAVAS-II), the amplitudes and phases of the annual, semi-annual and quasi-biennial variation in stratospheric and lower mesospheric water were compared using 30 data sets from 13 different satellite instruments. These comparisons aimed to provide a comprehensive overview of the typical uncertainties in the observational database which can be considered in subsequent observational and modelling studies. For the amplitudes, a good agreement of their latitude and altitude distribution was found. Quantitatively there were differences in particular at high latitudes, close to the tropopause and in the lower mesosphere. In these regions, the standard deviation over all data sets typically exceeded 0.2 ppmv for the annual variation and 0.1 ppmv for the semi-annual and quasi-biennial variation. For the phase, larger differences between the data sets were found in the lower mesosphere. Generally the smallest phase uncertainties can be observed in regions where the amplitude of the variability is large. The standard deviations of the phases for all data sets were typically smaller than a month for the annual and semi-annual variation and smaller than 5 months for the quasi-biennial variation. The amplitude and phase differences among the data sets are caused by a combination of factors. In general, differences in the temporal variation of systematic errors and in the observational sampling play a dominant role. In addition, differences in the vertical resolution of the data, the considered time periods and influences of clouds, aerosols as well as non-local thermodynamic equilibrium (NLTE) effects cause differences between the individual data sets. .1 Symposia of COSPAR Scientific Commission A, held during the Thirty-first COSPAR Scientific Assembly
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| 17. |
- Lossow, Stefan, 1977, et al.
(författare)
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The SPARC water vapour assessment II: Profile-to-profile comparisons of stratospheric and lower mesospheric water vapour data sets obtained from satellites
- 2019
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Ingår i: Atmospheric Measurement Techniques. - : Copernicus GmbH. - 1867-1381 .- 1867-8548. ; 12:5, s. 2693-2732
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Tidskriftsartikel (refereegranskat)abstract
- This work is distributed under the Creative Commons Attribution 4.0 License. Within the framework of the second SPARC (Stratosphere-troposphere Processes And their Role in Climate) water vapour assessment (WAVAS-II), profile-to-profile comparisons of stratospheric and lower mesospheric water vapour were performed by considering 33 data sets derived from satellite observations of 15 different instruments. These comparisons aimed to provide a picture of the typical biases and drifts in the observational database and to identify data-set-specific problems. The observational database typically exhibits the largest biases below 70 hPa, both in absolute and relative terms. The smallest biases are often found between 50 and 5 hPa. Typically, they range from 0.25 to 0.5 ppmv (5 % to 10 %) in this altitude region, based on the 50 % percentile over the different comparison results. Higher up, the biases increase with altitude overall but this general behaviour is accompanied by considerable variations. Characteristic values vary between 0.3 and 1 ppmv (4 % to 20 %). Obvious data-set-specific bias issues are found for a number of data sets. In our work we performed a drift analysis for data sets overlapping for a period of at least 36 months. This assessment shows a wide range of drifts among the different data sets that are statistically significant at the 2 σ uncertainty level. In general, the smallest drifts are found in the altitude range between about 30 and 10 hPa. Histograms considering results from all altitudes indicate the largest occurrence for drifts between 0.05 and 0.3 ppmv decade-1. Comparisons of our drift estimates to those derived from comparisons of zonal mean time series only exhibit statistically significant differences in slightly more than 3 % of the comparisons. Hence, drift estimates from profile-to-profile and zonal mean time series comparisons are largely interchangeable. As for the biases, a number of data sets exhibit prominent drift issues. In our analyses we found that the large number of MIPAS data sets included in the assessment affects our general results as well as the bias summaries we provide for the individual data sets. This is because these data sets exhibit a relative similarity with respect to the remaining data sets, despite the fact that they are based on different measurement modes and different processors implementing different retrieval choices. Because of that, we have by default considered an aggregation of the comparison results obtained from MIPAS data sets. Results without this aggregation are provided on multiple occasions to characterise the effects due to the numerous MIPAS data sets. Among other effects, they cause a reduction of the typical biases in the observational database.
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| 18. |
- Khosrawi, F., et al.
(författare)
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The SPARC water vapour assessment II: Comparison of stratospheric and lower mesospheric water vapour time series observed from satellites
- 2018
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Ingår i: Atmospheric Measurement Techniques. - : Copernicus GmbH. - 1867-1381 .- 1867-8548. ; 11:7, s. 4435-4463
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Tidskriftsartikel (refereegranskat)abstract
- Time series of stratospheric and lower mesospheric water vapour using 33 data sets from 15 different satellite instruments were compared in the framework of the second SPARC (Stratosphere-troposphere Processes And their Role in Climate) water vapour assessment (WAVAS-II). This comparison aimed to provide a comprehensive overview of the typical uncertainties in the observational database that can be considered in the future in observational and modelling studies, e.g addressing stratospheric water vapour trends. The time series comparisons are presented for the three latitude bands, the Antarctic (80°-70°S), the tropics (15°S-15°N) and the Northern Hemisphere mid-latitudes (50°-60°N) at four different altitudes (0.1, 3, 10 and 80hPa) covering the stratosphere and lower mesosphere. The combined temporal coverage of observations from the 15 satellite instruments allowed the consideration of the time period 1986-2014. In addition to the qualitative comparison of the time series, the agreement of the data sets is assessed quantitatively in the form of the spread (i.e. the difference between the maximum and minimum volume mixing ratios among the data sets), the (Pearson) correlation coefficient and the drift (i.e. linear changes of the difference between time series over time). Generally, good agreement between the time series was found in the middle stratosphere while larger differences were found in the lower mesosphere and near the tropopause. Concerning the latitude bands, the largest differences were found in the Antarctic while the best agreement was found for the tropics. From our assessment we find that most data sets can be considered in future observational and modelling studies, e.g. addressing stratospheric and lower mesospheric water vapour variability and trends, if data set specific characteristics (e.g. drift) and restrictions (e.g. temporal and spatial coverage) are taken into account.
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| 19. |
- Kiefer, M., et al.
(författare)
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The SPARC water vapour assessment II: biases and drifts of water vapour satellite data records with respect to frost point hygrometer records
- 2023
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Ingår i: Atmospheric Measurement Techniques. - 1867-1381 .- 1867-8548. ; 16:19, s. 4589-4642
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Tidskriftsartikel (refereegranskat)abstract
- Satellite data records of stratospheric water vapour have been compared to balloon-borne frost point hygrometer (FP) profiles that are coincident in space and time. The satellite data records of 15 different instruments cover water vapour data available from January 2000 through December 2016. The hygrometer data are from 27 stations all over the world in the same period. For the comparison, real or constructed averaging kernels have been applied to the hygrometer profiles to adjust them to the measurement characteristics of the satellite instruments. For bias evaluation, we have compared satellite profiles averaged over the available temporal coverage to the means of coincident FP profiles for individual stations. For drift determinations, we analysed time series of relative differences between spatiotemporally coincident satellite and hygrometer profiles at individual stations. In a synopsis we have also calculated the mean biases and drifts (and their respective uncertainties) for each satellite record over all applicable hygrometer stations in three altitude ranges (10-30 hPa, 30-100 hPa, and 100 hPa to tropopause). Most of the satellite data have biases <10 % and average drifts <1 % yr-1 in at least one of the respective altitude ranges. Virtually all biases are significant in the sense that their uncertainty range in terms of twice the standard error of the mean does not include zero. Statistically significant drifts (95 % confidence) are detected for 35 % of the ≈ 1200 time series of relative differences between satellites and hygrometers.
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