| 1. |
- Aprile, E., et al.
(författare)
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Effective Field Theory and Inelastic Dark Matter Results from XENON1T
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- In this work we expand on the XENON1T nuclear recoil searches and study the individual signals of Dark Matter interactions from operators up to dimension-eight in a Chiral Effective Field Theory (ChEFT) as well as a model of inelastic Dark Matter using data from the two science runs of the detector totalling 1 tonne*year exposure. For these analyses we extended the region of interest from [4.9, 40.9]keVnr to [4.9, 54.4]keVnr to enhance our sensitivity for signals that peak at nonzero energies. We show that the data is consistent with a background only hypothesis, with small excesses in the models which peak between 20 and 50keVnr, obtaining a maximum local discovery significance of 1.7 for the VVs ChEFT model for a WIMP mass of 70GeV/c2, and 1.8 for an iDM particle of 50GeV/c2 with a mass splitting of 100keV/c2. For each model we report 90% confidence level upper limits. We also report limits on three benchmark models of WIMP interaction using ChEFT for which we investigate the effect of isospin breaking interactions, reporting up to 6 orders of magnitude weaker limits with respect to the isospin conserving case driven by cancellations in the expected rate.
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| 2. |
- Khalili, Bita, et al.
(författare)
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Associations between common genetic variants and income provide insights about the socioeconomic health gradient
- 2024
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- We conducted a genome-wide association study (GWAS) on income among individuals of European descent and leveraged the results to investigate the socio-economic health gradient (N=668,288). We found 162 genomic loci associated with a common genetic factor underlying various income measures, all with small effect sizes. Our GWAS-derived polygenic index captures 1 - 4% of income variance, with only one-fourth attributed to direct genetic effects. A phenome-wide association study using this polygenic index showed reduced risks for a broad spectrum of diseases, including hypertension, obesity, type 2 diabetes, coronary atherosclerosis, depression, asthma, and back pain. The income factor showed a substantial genetic correlation (0.92, s.e. = .006) with educational attainment (EA). Accounting for EA's genetic overlap with income revealed that the remaining genetic signal for higher income related to better mental health but reduced physical health benefits and increased participation in risky behaviours such as drinking and smoking.
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| 3. |
- Olson, Nathan D., et al.
(författare)
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precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions
- 2020
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- The precisionFDA Truth Challenge V2 aimed to assess the state-of-the-art of variant calling in difficult-to-map regions and the Major Histocompatibility Complex (MHC). Starting with FASTQ files, 20 challenge participants applied their variant calling pipelines and submitted 64 variant callsets for one or more sequencing technologies (~35X Illumina, ~35X PacBio HiFi, and ~50X Oxford Nanopore Technologies). Submissions were evaluated following best practices for benchmarking small variants with the new GIAB benchmark sets and genome stratifications. Challenge submissions included a number of innovative methods for all three technologies, with graph-based and machine-learning methods scoring best for short-read and long-read datasets, respectively. New methods out-performed the 2016 Truth Challenge winners, and new machine-learning approaches combining multiple sequencing technologies performed particularly well. Recent developments in sequencing and variant calling have enabled benchmarking variants in challenging genomic regions, paving the way for the identification of previously unknown clinically relevant variants.
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| 4. |
- Yang, Li Li, 1980-, et al.
(författare)
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Mg diffusion in Zn0.94Mg0.06O/ZnO heterostructures grown by MOCVD
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Zn0.94Mg0.06O/ZnO heterostructures were grown on 2 inch sapphire wafer by MOCVD equipment. Photoluminescence mapping demonstrated that Mg uniformly distributed on the entire wafer with average concentration of ~6%. The annealing effects on the Mg diffusion behaviors were investigated by secondary ion mass spectrometry (SIMS). All Mg SIMS depth profiles were fitted by three Gaussian distribution functions. The Mg diffusion coefficient in the as-grown Zn0.94Mg0.06O layer deposited at 700 oC was two order of magnitude lower than that of annealed samples, which indicated that the deposition temperature of 700 oC is much more beneficial to grow ZnMgO/ZnO heterostructures or quantum wells.
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| 5. |
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| 6. |
- Chen, Dorothy M, et al.
(författare)
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Transcriptome-Wide Association Analysis Identifies Novel Candidate Susceptibility Genes for Prostate-Specific Antigen Levels in Men Without Prostate Cancer
- 2023
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Deciphering the genetic basis of prostate-specific antigen (PSA) levels may improve their utility to screen for prostate cancer (PCa). We thus conducted a transcriptome-wide association study (TWAS) of PSA levels using genome-wide summary statistics from 95,768 PCa-free men, the MetaXcan framework, and gene prediction models trained in Genotype-Tissue Expression (GTEx) project data. Tissue-specific analyses identified 41 statistically significant (p < 0.05/12,192 = 4.10e-6) associations in whole blood and 39 statistically significant (p < 0.05/13,844 = 3.61e-6) associations in prostate tissue, with 18 genes associated in both tissues. Cross-tissue analyses that combined associations across 45 tissues identified 155 genes that were statistically significantly (p < 0.05/22,249 = 2.25e-6) associated with PSA levels. Based on conditional analyses that assessed whether TWAS associations were attributable to a lead GWAS variant, we found 20 novel genes (11 single-tissue, 9 cross-tissue) that were associated with PSA levels in the TWAS. Of these novel genes, five showed evidence of colocalization (colocalization probability > 0.5): EXOSC9, CCNA2, HIST1H2BN, RP11-182L21.6 , and RP11-327J17.2 . Six of the 20 novel genes are not known to impact PCa risk. These findings yield new hypotheses for genetic factors underlying PSA levels that should be further explored toward improving our understanding of PSA biology.
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| 7. |
- Ertoprak, Aysegul, et al.
(författare)
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Lifetime measurements of core-excited states in semi-magic 95Rh
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Lifetimes of negative-parity states have been determined in the semi-magic (N=50) nucleus 95Rh. The fusion-evaporation reaction 58Ni(40Ca, 3p) was used to populate high-spin states in 95Rh at the Grand Accelerateur National d'Ions Lourds (GANIL) accelerator facility. The results were obtained using the Doppler Shift Attenuation Method (DSAM) based on the Doppler broadened line shapes produced during the slowing down process of the residual nuclei in a thick 6~ mg/cm2 metallic target. B(M1) and B(E2) reduced transition strengths are compared with predictions from large-scale shell-model calculations.
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| 8. |
- Ertoprak, Aysegul, 1987-, et al.
(författare)
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M1 and E2 transition rates from core-excited states in semi-magic 94Ru
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Lifetimes of high-spin states have been measured in the semi-magic (N=50) nucleus 94Ru. Excited states in 94Ru were populated in the 58Ni(40Ca, 4p)94Ru∗ fusion-evaporation reaction at the Grand Accelerateur National d’Ions Lourds (GANIL) accelerator complex. DSAM lifetime analysis was performed on the Doppler broadened line shapes in energy spectra obtained from γ-rays emitted while the residual nuclei were slowing down in a thick 6 mg/cm2 metallic 58Ni target. In total eight excited-state lifetimes in the angular momentum range I = (13 − 20)ħ have been measured, five of which were determined for the first time. The deduced corresponding B(M1) and B(E2)reduced transition strengths are discussed within the framework of large-scale shell model calculations to study the contribution of different particle-hole configurations, in particular for analyzing contributions from core-excited configurations.
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| 9. |
- Hoffmann, Thomas J, et al.
(författare)
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Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves cross-ancestry prediction
- 2023
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- We conducted a multi-ancestry genome-wide association study of prostate-specific antigen (PSA) levels in 296,754 men (211,342 European ancestry; 58,236 African ancestry; 23,546 Hispanic/Latino; 3,630 Asian ancestry; 96.5% of participants were from the Million Veteran Program). We identified 318 independent genome-wide significant (p≤5e-8) variants, 184 of which were novel. Most demonstrated evidence of replication in an independent cohort (n=95,768). Meta-analyzing discovery and replication (n=392,522) identified 447 variants, of which a further 111 were novel. Out-of-sample variance in PSA explained by our new polygenic risk score reached 16.9% (95% CI=16.1%-17.8%) in European ancestry, 9.5% (95% CI=7.0%-12.2%) in African ancestry, 18.6% (95% CI=15.8%-21.4%) in Hispanic/Latino, and 15.3% (95% CI=12.7%-18.1%) in Asian ancestry, and lower for higher age. Our study highlights how including proportionally more participants from underrepresented populations improves genetic prediction of PSA levels, with potential to personalize prostate cancer screening.
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| 10. |
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