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1.
  • Romagnoni, A, et al. (author)
  • Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data
  • 2019
  • In: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9:1, s. 10351-
  • Journal article (peer-reviewed)abstract
    • Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machine learning (ML) approaches incited us to apply them to classify healthy and diseased people according to their genomic information. The Immunochip dataset containing 18,227 CD patients and 34,050 healthy controls enrolled and genotyped by the international Inflammatory Bowel Disease genetic consortium (IIBDGC) has been re-analyzed using a set of ML methods: penalized logistic regression (LR), gradient boosted trees (GBT) and artificial neural networks (NN). The main score used to compare the methods was the Area Under the ROC Curve (AUC) statistics. The impact of quality control (QC), imputing and coding methods on LR results showed that QC methods and imputation of missing genotypes may artificially increase the scores. At the opposite, neither the patient/control ratio nor marker preselection or coding strategies significantly affected the results. LR methods, including Lasso, Ridge and ElasticNet provided similar results with a maximum AUC of 0.80. GBT methods like XGBoost, LightGBM and CatBoost, together with dense NN with one or more hidden layers, provided similar AUC values, suggesting limited epistatic effects in the genetic architecture of the trait. ML methods detected near all the genetic variants previously identified by GWAS among the best predictors plus additional predictors with lower effects. The robustness and complementarity of the different methods are also studied. Compared to LR, non-linear models such as GBT or NN may provide robust complementary approaches to identify and classify genetic markers.
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6.
  • Lalkovski, S., et al. (author)
  • Core-coupled states and split proton-neutron quasiparticle multiplets in Ag122-126
  • 2013
  • In: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 87:3, s. 034308-
  • Journal article (peer-reviewed)abstract
    • Neutron-rich silver isotopes were populated in the fragmentation of a Xe-136 beam and the relativistic fission of U-238. The fragments were mass analyzed with the GSI Fragment Separator and subsequently implanted into a passive stopper. Isomeric transitions were detected by 105 high-purity germanium detectors. Eight isomeric states were observed in Ag122-126 nuclei. The level schemes of Ag-122,Ag-123,Ag-125 were revised and extended with isomeric transitions being observed for the first time. The excited states in the odd-mass silver isotopes are interpreted as core-coupled states. The isomeric states in the even-mass silver isotopes are discussed in the framework of the proton-neutron split multiplets. The results of shell-model calculations, performed for the most neutron-rich silver nuclei are compared to the experimental data.
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7.
  • Söderström, Pär-Anders, et al. (author)
  • Spectroscopy of neutron-rich Dy-168,Dy-170 : Yrast band evolution close to the NpNn valence maximum
  • 2010
  • In: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 81:3, s. 034310-
  • Journal article (peer-reviewed)abstract
    • The yrast sequence of the neutron-rich dysprosium isotope Dy-168 has been studied using multinucleon transfer reactions following collisions between a 460-MeV Se-82 beam and an Er-170 target. The reaction products were identified using the PRISMA magnetic spectrometer and the gamma rays detected using the CLARA HPGe-detector array. The 2(+) and 4(+) members of the previously measured ground-state rotational band of Dy-168 have been confirmed and the yrast band extended up to 10(+). A tentative candidate for the 4(+) -> 2(+) transition in Dy-170 was also identified. The data on these nuclei and on the lighter even-even dysprosium isotopes are interpreted in terms of total Routhian surface calculations and the evolution of collectivity in the vicinity of the proton-neutron valence product maximum is discussed.
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8.
  • Wadsworth, R., et al. (author)
  • THE NORTHWEST FRONTIER : SPECTROSCOPY OF N similar to Z NUCLEI BELOW MASS 100
  • 2009
  • In: Acta Physica Polonica B. - 0587-4254 .- 1509-5770. ; 40:3, s. 611-620
  • Journal article (peer-reviewed)abstract
    • The spectroscopy and structure of excited states of N similar to Z nuclei in the mass 70-100 region has been investigated using two techniques. In the A similar to 70-80 region fusion evaporation reactions coupled with the recoil-beta-tagging method have been employed at Jyvaskyla to study low-lying states in odd-odd N = Z nuclei. Results from these and other data for known odd-odd nuclei above mass 60 will be discussed. In the heavier mass 90 region a fragmentation experiment has been performed using the RIS-ING/FRS setup at GSI. This experiment was primarily aimed at searching for spin gap isomers in nuclei around A similar to 96. The objectives of the latter experiment will be discussed.
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9.
  • Craddock, Nick, et al. (author)
  • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
  • 2010
  • In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
  • Journal article (peer-reviewed)abstract
    • Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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10.
  • Morales, A. I., et al. (author)
  • beta -Delayed gamma -Ray Spectroscopy of Heavy Neutron Rich Nuclei "South" of Lead
  • 2009
  • In: Acta Physica Polonica B. - 0587-4254. ; 40:3, s. 867-870
  • Conference paper (peer-reviewed)abstract
    • Relativistic projectile fragmentation of a Pb-208 primary beam has been used to produce neutron-rich nuclei with proton-holes relative to the Z = 82 shell closure, i.e., "south" of Pb. beta-delayed gamma-ray spectroscopy allows to investigate the structural properties of such nuclei with A similar to 195 -> 205. The current work presents transitions de-exciting excited states in Au-204, which are the first spectroscopic information on this N = 125 isotone.
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11.
  • Wang, F., et al. (author)
  • Reinvestigation of the excited states in the proton emitter Lu-151 : Particle-hole excitations across the N = Z=64 subshell
  • 2017
  • In: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 96:6
  • Journal article (peer-reviewed)abstract
    • The excited states of the proton emitter Lu-151 were reinvestigated in a recoil-decay tagging experiment at the Accelerator Laboratory of the University of Jyvaskyla (JYFL). The level scheme built on the ground state of 151Lu was updated with five new y-ray transitions. Large-scale shell model calculations were carried out in the model space consisting of the neutron and proton orbitals 0g(7/2), Id(5/2), Id(3/2), 2s(1/2), and Oh(1/2) with the optimized monopole interaction in order to interpret the experimental level scheme of Lu-151. It is found that the excitation energies of states above the 27/2(-) and 23/2(+) isomeric levels in Lu-151 can be sensitive to excitations from g(7/2) and d(5/2) to single-particle orbitals above N = Z = 64.
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12.
  • Wang, F., et al. (author)
  • Spectroscopic factor and proton formation probability for the d3/2 proton emitter 151mLu
  • 2017
  • In: Physics Letters B. - : Elsevier. - 0370-2693 .- 1873-2445. ; 770, s. 83-87
  • Journal article (peer-reviewed)abstract
    • The quenching of the experimental spectroscopic factor for proton emission from the short-lived d3/2 isomeric state in 151mLu was a long-standing problem. In the present work, proton emission from this isomer has been reinvestigated in an experiment at the Accelerator Laboratory of the University of Jyväskylä. The proton-decay energy and half-life of this isomer were measured to be 1295(5) keV and 15.4(8) μs, respectively, in agreement with another recent study. These new experimental data can resolve the discrepancy in the spectroscopic factor calculated using the spherical WKB approximation. Using the R-matrix approach it is found that the proton formation probability indicates no significant hindrance for the proton decay of 151mLu.
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13.
  • Al-Dahan, N., et al. (author)
  • Nuclear Structure "Southeast" of 208Pb: Isomeric states in 208Hg and 209Tl
  • 2009
  • In: Physical Review C (Nuclear Physics). - 0556-2813. ; 80:6
  • Journal article (peer-reviewed)abstract
    • The nuclear structure of neutron-rich N>126 nuclei has been investigated following their production via relativistic projectile fragmentation of a E/A=1 GeV U-238 beam. Metastable states in the N=128 isotones Hg-208 and Tl-209 have been identified. Delayed gamma-ray transitions are interpreted as arising from the decay of I-pi=(8(+)) and (17/2(+)) isomers, respectively. The data allow for the so far most comprehensive verification of the shell-model approach in the region determined by magic numbers Z < 82 and N>126.
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14.
  • Morales, A. I., et al. (author)
  • beta-delayed gamma-ray spectroscopy of Au-203,Au-204 and Pt200-202
  • 2013
  • In: Physical Review C (Nuclear Physics). - 0556-2813. ; 88:1
  • Journal article (peer-reviewed)abstract
    • The beta decay of five heavy, neutron-rich nuclei, Pt-203,Pt-204 and Ir200-202, has been investigated following relativistic cold fragmentation reactions of lead projectiles using the FRS + RISING setup at GSI. This paper reports on the study of the low-lying states in the decay daughter nuclei Au-203,Au-204 and Pt200-202. The characteristic gamma rays for each nucleus have been determined using beta-delayed gamma-ray spectroscopy. Tentative level schemes, relative intensities, and apparent beta feedings are provided. These data are compared with shell-model calculations, which indicate a substantial contribution to the total beta strength from high-energy first-forbidden beta-decay transitions in this mass region.
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15.
  • Morales, A I, et al. (author)
  • Half-Life Systematics across the N=126 Shell Closure: Role of First-Forbidden Transitions in the β Decay of Heavy Neutron-Rich Nuclei.
  • 2014
  • In: Physical Review Letters. - 1079-7114. ; 113:2
  • Journal article (peer-reviewed)abstract
    • This Letter reports on a systematic study of β-decay half-lives of neutron-rich nuclei around doubly magic ^{208}Pb. The lifetimes of the 126-neutron shell isotone ^{204}Pt and the neighboring ^{200-202}Ir, ^{203}Pt, ^{204}Au are presented together with other 19 half-lives measured during the "stopped beam" campaign of the rare isotope investigations at GSI collaboration. The results constrain the main nuclear theories used in calculations of r-process nucleosynthesis. Predictions based on a statistical macroscopic description of the first-forbidden β strength reveal significant deviations for most of the nuclei with N<126. In contrast, theories including a fully microscopic treatment of allowed and first-forbidden transitions reproduce more satisfactorily the trend in the measured half-lives for the nuclei in this region, where the r-process pathway passes through during β decay back to stability.
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16.
  • Al-Dahan, N., et al. (author)
  • Multiple beta(-) decaying states in Re-194: Shape evolution in neutron-rich osmium isotopes
  • 2012
  • In: Physical Review C (Nuclear Physics). - 0556-2813. ; 85:3
  • Journal article (peer-reviewed)abstract
    • beta decays from heavy, neutron-rich nuclei with A similar to 190 have been investigated following their production via the relativistic projectile fragmentation of an E/A = 1 GeV Pb-208 primary beam on a similar to 2.5 g/cm(2) Be-9 target. The reaction products were separated and identified using the GSI FRagment Separator (FRS) and stopped in the RISING active stopper. gamma decays were observed and correlated with these secondary ions on an event-by-event basis such that gamma-ray transitions following from both internal (isomeric) and beta decays were recorded. A number of discrete, beta-delayed gamma-ray transitions associated with beta decays from Re-194 to excited states in Os-194 have been observed, including previously reported decays from the yrast I-pi = (6(+)) state. Three previously unreported gamma-ray transitions with energies 194, 349, and 554 keV are also identified; these transitions are associated with decays from higher spin states in Os-194. The results of these investigations are compared with theoretical predictions from Nilsson multi-quasiparticle (MQP) calculations. Based on lifetime measurements and the observed feeding pattern to states in Os-194, it is concluded that there are three beta(-)-decaying states in Re-194.
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17.
  • Caceres, L. S., et al. (author)
  • Identification of Excited States in the N = Z Nucleus 82Nb
  • 2007
  • In: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 38:4, s. 1271-1275
  • Journal article (peer-reviewed)abstract
    • Information on the first excited states in the N = Z = 41 nucleus Nb-82 sheds light on the competition of isospin T = 0 and T = 1 states in the A similar to 80 region. The measurement was performed at the GSI laboratory using fragmentation of a Ag-107 primary beam at 750 MeV/u on a 4 g/cm(2) Be-9 target. The fragments were separated and identified unambiguously in the FRagment Separator. Three excited states were observed and the half-life estimate for the isomeric state was extracted. A tentative spin assignment based on the isobaric analogue states systematics in the T-z = 1 nucleus Zr-82, and transition probabilities indicate T = 1 character of the first two excited states, and T = 0 for the isomeric state.
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18.
  • Pietri, S., et al. (author)
  • First Results from the Stopped Beam Isomer RISING Campaign at GSI
  • 2007
  • In: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 38:4, s. 1255-1264
  • Journal article (peer-reviewed)abstract
    • The first results from a series of experiments focused on the study of the internal structure of nuclei at the extremes of N:Z ratio using isomer spectroscopy are reported. These experiments represent the first of the Stopped Beam section of the Rare Isotopes Investigations at GSI (RISING) project. Exotic nuclei were synthesized using relativistic projectile fragmentation of similar to 500 -> 1000 MeV/u beams of Ag-107, Pb-208, Xe-136 and Ni-58, or fission of 750 MeV/u U-238 provided by the SIS synchrotron at GSI. A detailed description of the RISING stopped beam set up is given, together with a report of the performance of the associated gamma-ray spectrometer array. Selected results of the first experimental campaign are presented together with a discussion on the use of isomeric spectroscopy to study GeV range nuclear fragmentation. Details on future research plans of this collaboration are also outlined.
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19.
  • Podolyak, Zs., et al. (author)
  • Isomeric Decay Studies Around 204Pt and 148Tb
  • 2007
  • In: The European Physical Journal. Special Topics. - : Springer Science and Business Media LLC. - 1951-6355 .- 1951-6401. ; 150, s. 165-168
  • Journal article (peer-reviewed)abstract
    • Relativistic energy projectile fragmentation of Pb-208 has been used to produce a range of exotic nuclei. The nuclei of interest were studied by detecting delayed gamma rays following the decay of isomeric states. Experimental information on the excited states of the neutron-rich N = 126 nucleus, Pt-204, following internal decay of two isomeric states, was obtained for the first time. In addition, decays from the previously reported isomeric I=27h and I=(49/2)h states in Tb-148 and Gd-147, respectively, have been observed. These isomeric decays represent the highest spin discrete states observed to date following a projectile fragmentation reaction, and opens further the possibility of doing 'high-spin physics' using this technique.
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20.
  • Regan, P. H., et al. (author)
  • First Results from the Stopped RISING Campaign at GSI: The Mapping of Isomeric Decays in Highly Exotic Nuclei
  • 2007
  • In: AIP Conference Proceedings. - : AIP. - 0094-243X. - 9780735413283 ; 899, s. 19-22
  • Conference paper (peer-reviewed)abstract
    • The first results from the Stopped Beam RISING experimental campaign performed at the GSI laboratory in Darmstadt, Germany, are presented. RISING (Rare ISotope INvestigations at GSI) constitutes a major new experimental program in European nuclear structure physics research aimed at using relativistic‐energy, projectile‐fragmentation reactions to study nuclei with exotic proton‐to‐neutron ratios. This paper introduces the physics aims of the Stopped RISING collaboration and presents some technical details and initial results from experiments using the RISING array to study decays from metastable nuclear states in both proton and neutron‐rich nuclei.
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21.
  • Rudolph, Dirk, et al. (author)
  • Exciting Isomers from the First Stopped-beam RISING Campaign
  • 2007
  • In: The European Physical Journal. Special Topics. - : Springer Science and Business Media LLC. - 1951-6355 .- 1951-6401. ; 150, s. 173-176
  • Journal article (peer-reviewed)abstract
    • First results are reported from a major new initiative of experiments, which focus on nuclear structure studies at extreme isospin values by means of isomer spectroscopy. The experiments represent the first part of the so-called stopped-beam campaign within the Rare ISotope INvestigations at GSI (RISING) project. Time-correlated gamma decays from individually identified nuclear species have been measured, allowing the clean identification of isomeric decays in a wide range of exotic nuclei both at the proton drip-line and in heavy, neutron-rich systems. An overview of the experimental technique will be given, together with the performance of the new germanium detector array and future research plans for the collaboration.
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22.
  • Steer, S. J., et al. (author)
  • Isomeric Decay Studies In Neutron-Rich N Approximate To 126 Nuclei
  • 2009
  • In: International Journal Of Modern Physics E-Nuclear Physics. - 0218-3013. ; 18:4, s. 1002-1007
  • Conference paper (peer-reviewed)abstract
    • Heavy neutron-rich nuclei were populated via relativistic energy fragmentation of a E/A= 1 GeV Pb-208 beam. The nuclei of interest were selected and identified by a fragment separator and then implanted in a passive plastic stopper. Delayed. rays following internal isomeric decays were detected by the RISING array. Experimental information was obtained on a number of nuclei with Z=73-80 (Ta-Hg), providing new information both on the prolate-oblate transitional region as well as on the N=126 closed shell nuclei.
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23.
  • Al-Dahan, N., et al. (author)
  • Isomeric States In 208Hg And 209Tl Populated In Fragmentation Of 238U
  • 2009
  • In: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 40:3, s. 871-874
  • Journal article (peer-reviewed)abstract
    • The nuclear structure of neutron-rich N > 126 nuclei has been investigated following their production via relativistic projectile fragmentation of a E/A = 1 GeV U-238 beam on a Be target. The preliminary analysis indicates the presence of previously unreported isomeric states in the N = 128 isotones Hg-208 and Tl-209.
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24.
  • Al-Dahan, N., et al. (author)
  • Structure of N≥126 Nuclei Produced in Fragmentation of 238U
  • 2009
  • In: Proceedings of the 13th International Symposium on Capture Gamma‐Ray Spectroscopy and Related Topics. - : AIP. - 0094-243X. ; 1090, s. 145-148
  • Conference paper (peer-reviewed)abstract
    • The nuclear structure of neutron-rich N≥126 nuclei have been investigated following their production via relativistic projectile fragmentation of a E/A=l GeV 238U beam on a Be target. The cocktail of secondary beam products were separated and identified using the GSI FRagment Separator (FRS). The nuclei of interest were implanted in a high-granularity active stopper detector set-up consisting of 6 double sided silicon strip detectors. The associated gamma-ray transitions were detected with the RISING array, consisting of 15 Euroball cluster Ge-detectors. Time-correlated gamma decays from individually identified nuclear species have been recorded, allowing the clean identification of isomeric decays.
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25.
  • Alkhomashi, N., et al. (author)
  • Beta(-)-Delayed And Isomer Spectroscopy Of Neutron-Rich Ta And W Isotopes
  • 2009
  • In: Acta Physica Polonica B. - 0587-4254. ; 40:3, s. 875-878
  • Conference paper (peer-reviewed)abstract
    • Decays of neutron-rich A similar to 190 nuclei have been studied following projectile fragmentation of a Pb-208 beam on a Be-9 target at the GSI Fragment Separator. Gamma-ray decays from previously reported isomeric states in Ta-188, W-190 and (192,193) Re were used as internal calibrations for the particle identification analysis, together with the identification of previously unreported isomeric decays in Ta-189 and W-191. The current work also identifies beta-delayed gamma rays following the decay of Ta-188 to W-188 for the first time.
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