44 research outputs found

    Architettura stateless con uso di Singularity per il porting degli applicativi WRF-4.1.5 e BOLAM

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    Viene proposta una tecnologia stateless per il porting dei prodotti della ricerca su piattaforme Infrastucture As A Service (IAAS), centrata sull'uso di container basati sulla tecnologia Singularity

    Chimbo-2020

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    Questo technical report costituisce una guida per la creazione e manutenzione della catena modellistica CHIMBO-2020 sviluppata da ISAC a partire dal 2017. Le corse operative attualmente attive e generate quotidianamente con la attuale versione di questo sistema modellistico sono: - CHIMBO @ CNR - ISAC - CHIMBO @ ARPA Sicili

    Climatological assessment of the vertically resolved optical and microphysical aerosol properties by lidar measurements, sun photometer, and in situ observations over 17 years at Universitat Politècnica de Catalunya (UPC) Barcelona

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    Aerosols are one of the most important pollutants in the atmosphere and have been monitored for the past few decades by remote sensing and in situ observation platforms to assess the effectiveness of government-managed reduction emission policies and assess their impact on the radiative budget of the Earth's atmosphere. In fact, aerosols can directly modulate incoming short-wave solar radiation and outgoing long-wave radiation and indirectly influence cloud formation, lifetime, and precipitation. In this study, we quantitatively evaluated long-term temporal trends and seasonal variability from a climatological point of view of the optical and microphysical properties of atmospheric particulate matter at the Universitat Politècnica de Catalunya (UPC), Barcelona, Spain, over the past 17 years, through a synergy of lidar, sun photometer, and in situ concentration measurements. Interannual temporal changes in aerosol optical and microphysical properties are evaluated through the seasonal Mann–Kendall test. Long-term trends in the optical depth of the recovered aerosol; the Ångström exponent (AE); and the concentrations of PM10, PM2.5, and PM1 reveal that emission reduction policies implemented in the past decades were effective in improving air quality, with consistent drops in PM concentrations and optical depth of aerosols. The seasonal analysis of the 17-year average vertically resolved aerosol profiles obtained from lidar observations shows that during summer the aerosol layer can be found up to an altitude of 5 km, after a sharp decay in the first kilometer. In contrast, during the other seasons, the backscatter profiles fit a pronounced exponential decay well with a well-defined scale height. Long-range transport, especially dust outbreaks from the Sahara, is likely to occur throughout the year. During winter, the dust aerosol layers are floating above the boundary layer, while during the other seasons they can penetrate the layer. The analysis also revealed that intense, short-duration pollution events during winter, associated with dust outbreaks, have become more frequent and intense since 2016. This study sheds some light on the meteorological processes and conditions that can lead to the formation of haze and helps decision makers adopt mitigation strategies to preserve large metropolitan areas in the Mediterranean basin.This research has been supported by the European Union through NextgenerationEU funds and by the following projects along the years: FP5 EARLINET project (grant no. ID EVR1-CT-1999-40003), FP6 EARLINET-ASOS (ID: 25991), FP7 ACTRIS (ID: 262254), H2020 ACTRIS-2 (ID: 654109), ACTRIS-PPP (ID: 739530), ACTRIS IMP (ID: 871115) and ATMO-ACCESS (ID: 101008004), projects of the Spanish National Research programs (grant nos. TIC 431/93, AMB96-1144-C02-01, REN2000-1907-CE, REN2000-1754- C02-02/CLI, REN2003-09753-C02-C02/CLI, REN2003-09753- C02-C CGL2008-01330-E/CLI 02/CLI, REN2002-12784-E, CGL2005-5131-E, CGL2006-27108-E/CLI, CGL2006-26149- E/CLI, CGL2007-28871-/CLI, CTM2006-27154-E/TECNO, TEC2006-07850/TCM, TEC2009-09106, TEC2012-34575, TEC2015-63832-P and PID2019-103886RB-I00), the project of the Catalan Regional Government IMMPACTE, and the ESA project (grant no. 21487/08/NL/HE)Peer ReviewedPostprint (published version

    A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.

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    We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 × 10⁻¹²) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 × 10⁻¹¹) on 19q12 maps to CCNE1 and rs11892031 (P = 1 × 10⁻⁷) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10⁻¹¹) and a tag SNP for NAT2 acetylation status (P = 4 × 10⁻¹¹), and found interactions with smoking in both regions. Our findings on common variants associated with bladder cancer risk should provide new insights into the mechanisms of carcinogenesis

    A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.

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    We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 × 10⁻¹²) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 × 10⁻¹¹) on 19q12 maps to CCNE1 and rs11892031 (P = 1 × 10⁻⁷) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10⁻¹¹) and a tag SNP for NAT2 acetylation status (P = 4 × 10⁻¹¹), and found interactions with smoking in both regions. Our findings on common variants associated with bladder cancer risk should provide new insights into the mechanisms of carcinogenesis

    Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of european ancestry

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    Candidate gene and genome-wide association studies (GWAS) have identified 15 independent genomic regions associated with bladder cancer risk. In search for additional susceptibility variants, we followed up on four promising single-nucleotide polymorphisms (SNPs) that had not achieved genome-wide significance in 6911 cases and 11 814 controls (rs6104690, rs4510656, rs5003154 and rs4907479, P < 1 7 10(-6)), using additional data from existing GWAS datasets and targeted genotyping for studies that did not have GWAS data. In a combined analysis, which included data on up to 15 058 cases and 286 270 controls, two SNPs achieved genome-wide statistical significance: rs6104690 in a gene desert at 20p12.2 (P = 2.19 7 10(-11)) and rs4907479 within the MCF2L gene at 13q34 (P = 3.3 7 10(-10)). Imputation and fine-mapping analyses were performed in these two regions for a subset of 5551 bladder cancer cases and 10 242 controls. Analyses at the 13q34 region suggest a single signal marked by rs4907479. In contrast, we detected two signals in the 20p12.2 region-the first signal is marked by rs6104690, and the second signal is marked by two moderately correlated SNPs (r(2) = 0.53), rs6108803 and the previously reported rs62185668. The second 20p12.2 signal is more strongly associated with the risk of muscle-invasive (T2-T4 stage) compared with non-muscle-invasive (Ta, T1 stage) bladder cancer (case-case P 64 0.02 for both rs62185668 and rs6108803). Functional analyses are needed to explore the biological mechanisms underlying these novel genetic associations with risk for bladder cancer

    Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of european ancestry

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    Impact of individual level uncertainty of lung cancer polygenic risk score (PRS) on risk stratification

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    Abstract Background Although polygenic risk score (PRS) has emerged as a promising tool for predicting cancer risk from genome-wide association studies (GWAS), the individual-level accuracy of lung cancer PRS and the extent to which its impact on subsequent clinical applications remains largely unexplored. Methods Lung cancer PRSs and confidence/credible interval (CI) were constructed using two statistical approaches for each individual: (1) the weighted sum of 16 GWAS-derived significant SNP loci and the CI through the bootstrapping method (PRS-16-CV) and (2) LDpred2 and the CI through posteriors sampling (PRS-Bayes), among 17,166 lung cancer cases and 12,894 controls with European ancestry from the International Lung Cancer Consortium. Individuals were classified into different genetic risk subgroups based on the relationship between their own PRS mean/PRS CI and the population level threshold. Results Considerable variances in PRS point estimates at the individual level were observed for both methods, with an average standard deviation (s.d.) of 0.12 for PRS-16-CV and a much larger s.d. of 0.88 for PRS-Bayes. Using PRS-16-CV, only 25.0% of individuals with PRS point estimates in the lowest decile of PRS and 16.8% in the highest decile have their entire 95% CI fully contained in the lowest and highest decile, respectively, while PRS-Bayes was unable to find any eligible individuals. Only 19% of the individuals were concordantly identified as having high genetic risk (&gt; 90th percentile) using the two PRS estimators. An increased relative risk of lung cancer comparing the highest PRS percentile to the lowest was observed when taking the CI into account (OR = 2.73, 95% CI: 2.12–3.50, P-value = 4.13 × 10−15) compared to using PRS-16-CV mean (OR = 2.23, 95% CI: 1.99–2.49, P-value = 5.70 × 10−46). Improved risk prediction performance with higher AUC was consistently observed in individuals identified by PRS-16-CV CI, and the best performance was achieved by incorporating age, gender, and detailed smoking pack-years (AUC: 0.73, 95% CI = 0.72–0.74). Conclusions Lung cancer PRS estimates using different methods have modest correlations at the individual level, highlighting the importance of considering individual-level uncertainty when evaluating the practical utility of PRS. </jats:sec
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