| 1. |
- Aad, G, et al.
(author)
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- 2015
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swepub:Mat__t
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| 2. |
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| 3. |
- Bravo, L, et al.
(author)
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- 2021
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swepub:Mat__t
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| 4. |
- Tabiri, S, et al.
(author)
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- 2021
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| 5. |
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| 6. |
- Niemi, MEK, et al.
(author)
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- 2021
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swepub:Mat__t
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| 7. |
- Glasbey, JC, et al.
(author)
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- 2021
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| 8. |
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| 9. |
- Campbell, PJ, et al.
(author)
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Pan-cancer analysis of whole genomes
- 2020
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In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Journal article (peer-reviewed)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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| 10. |
- Botvinik-Nezer, Rotem, et al.
(author)
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Variability in the analysis of a single neuroimaging dataset by many teams
- 2020
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 582, s. 84-88
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Journal article (peer-reviewed)abstract
- Data analysis workflows in many scientific domains have become increasingly complex and flexible. Here we assess the effect of this flexibility on the results of functional magnetic resonance imaging by asking 70 independent teams to analyse the same dataset, testing the same 9 ex-ante hypotheses(1). The flexibility of analytical approaches is exemplified by the fact that no two teams chose identical workflows to analyse the data. This flexibility resulted in sizeable variation in the results of hypothesis tests, even for teams whose statistical maps were highly correlated at intermediate stages of the analysis pipeline. Variation in reported results was related to several aspects of analysis methodology. Notably, a meta-analytical approach that aggregated information across teams yielded a significant consensus in activated regions. Furthermore, prediction markets of researchers in the field revealed an overestimation of the likelihood of significant findings, even by researchers with direct knowledge of the dataset(2-5). Our findings show that analytical flexibility can have substantial effects on scientific conclusions, and identify factors that may be related to variability in the analysis of functional magnetic resonance imaging. The results emphasize the importance of validating and sharing complex analysis workflows, and demonstrate the need for performing and reporting multiple analyses of the same data. Potential approaches that could be used to mitigate issues related to analytical variability are discussed. The results obtained by seventy different teams analysing the same functional magnetic resonance imaging dataset show substantial variation, highlighting the influence of analytical choices and the importance of sharing workflows publicly and performing multiple analyses.
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| 11. |
- Weinstein, John N., et al.
(author)
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The cancer genome atlas pan-cancer analysis project
- 2013
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:10, s. 1113-1120
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Research review (peer-reviewed)abstract
- The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages. The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA. Analysis of the molecular aberrations and their functional roles across tumor types will teach us how to extend therapies effective in one cancer type to others with a similar genomic profile. © 2013 Nature America, Inc. All rights reserved.
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| 12. |
- Riley, M A, et al.
(author)
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Beyond band termination in Er-157 and the search for wobbling excitations in strongly deformed Hf-174
- 2005
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In: Journal of Physics G: Nuclear and Particle Physics. - : IOP Publishing. - 0954-3899 .- 1361-6471. ; 31:10, s. 1735-1740
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Journal article (peer-reviewed)abstract
- High-spin terminating bands in heavy nuclei were first identified in nuclei around Er-158(90). While examples of special terminating states have been identified in a number of erbium isotopes, almost nothing is known about the states lying beyond band termination. In the present work the high-spin structure of Er-157 has been studied using the Gammasphere spectrometer. The subject of triaxial superdeformation and 'wobbling' modes in Lu nuclei has rightly attracted a great deal of attention. Very recently, four strongly or superdeformed (SD) sequences have been observed in Hf-174 and ultimate cranker calculations predict, such structures may have significant triaxial deformation. We have performed two experiments in an attempt to verify the possible triaxial nature of these bands. A lifetime measurement was performed to confirm the large (and similar) deformation of the bands. In addition, a high-statistics, thin-target experiment was run to search for linking transitions between the SD bands and possible wobbling modes.
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| 13. |
- Riley, M. A., et al.
(author)
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Observation of states beyond band termination in Er-156,Er-157,Er-158 and strongly deformed structures in Hf-173,Hf-174,Hf-175
- 2006
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In: Physica Scripta. - 0031-8949. ; T125, s. 123-126
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Journal article (peer-reviewed)abstract
- High-spin terminating bands in heavy nuclei were first identified in nuclei around Er-158(90). While examples of terminating states have been identified in a number of erbium isotopes, almost nothing is known about the states lying beyond band termination. In the present work, the high-spin structure of Er-156,Er-157,Er-158 has been studied using the Gammasphere spectrometer. The subject of triaxial superdeformation and 'wobbling' modes in Lu nuclei has rightly attracted a great deal of attention. Very recently four strongly or superdeformed (SD) sequences have been observed in Hf-174, and cranking calculations using the Ultimate Cranker code predict that such structures may have significant triaxial deformation. We have performed two experiments in an attempt to verify the possible triaxial nature of these bands. A lifetime measurement was performed to confirm the large (and similar) deformation of the bands. In addition, a high-statistics, thin-target experiment took place to search for linking transitions between the SD bands, possible wobbling modes, and new SD band structures.
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| 14. |
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| 15. |
- Pfohl, J., et al.
(author)
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Highly deformed rotational structures in 136Pm
- 2000
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In: Physical Review C - Nuclear Physics. - 0556-2813. ; 62:3, s. 313041-313045
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Journal article (peer-reviewed)abstract
- Four highly deformed structures in the odd-odd nucleus 13661Pm75 were observed via the 105Pd(35Cl,2p2n) reaction at 180 and 173 MeV using the GAMMASPHERE γ-ray spectrometer and the Microball charged-particle detector array. Quadrupole moment measurements were performed on all of the bands. In contrast to lighter odd-Ζ Pm and Pr nuclei, bands based on the g9/2[404]9/2 proton orbital were not observed. Instead, the four observed sequences are assigned as a coupling of an i13/2 neutron with the low-Ω h11/2 and mixed d5/2g7/2 orbitals. Comparisons with neighboring highly deformed structures are discussed and cranked Nilsson-Strutinsky calculations for 136Pm are presented.
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| 16. |
- Martel, I., et al.
(author)
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An innovative Superconducting Recoil Separator for HIE-ISOLDE
- 2023
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In: Nuclear Instruments and Methods in Physics Research, Section B: Beam Interactions with Materials and Atoms. - : ELSEVIER. - 0168-583X .- 1872-9584. ; 541, s. 176-179
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Journal article (peer-reviewed)abstract
- The ISOLDE Scientific Infrastructure at CERN offers a unique range of post-accelerated radioactive beams. The scientific program can be improved with the “Isolde Superconducting Recoil Separator” (ISRS), an innovative spectrometer able to deliver unprecedented (A, Z) resolution. In this paper we present an overview of the physics and ongoing technical developments.
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| 17. |
- Buchhave, Lars A., et al.
(author)
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An abundance of small exoplanets around stars with a wide range of metallicities
- 2012
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 486:7403, s. 375-377
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Journal article (peer-reviewed)abstract
- The abundance of heavy elements (metallicity) in the photospheres of stars similar to the Sun provides a 'fossil' record of the chemical composition of the initial protoplanetary disk. Metal-rich stars are much more likely to harbour gas giant planets(1-4), supporting the model that planets form by accumulation of dust and ice particles(5). Recent ground-based surveys suggest that this correlation is weakened for Neptunian-sized planets(4,6-9). However, how the relationship between size and metallicity extends into the regime of terrestrial-sized exoplanets is unknown. Here we report spectroscopic metallicities of the host stars of 226 small exoplanet candidates discovered by NASA's Kepler mission(10), including objects that are comparable in size to the terrestrial planets in the Solar System. We find that planets with radii less than four Earth radii form around host stars with a wide range of metallicities (but on average a metallicity close to that of the Sun), whereas large planets preferentially form around stars with higher metallicities. This observation suggests that terrestrial planets may be widespread in the disk of the Galaxy, with no special requirement of enhanced metallicity for their formation.
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| 18. |
- Follette, Katherine B., et al.
(author)
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SEEDS ADAPTIVE OPTICS IMAGING OF THE ASYMMETRIC TRANSITION DISK OPH IRS 48 IN SCATTERED LIGHT
- 2015
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In: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 798:2
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Journal article (peer-reviewed)abstract
- We present the first resolved near-infrared imagery of the transition disk Oph IRS 48 (WLY 2-48), which was recently observed with ALMA to have a strongly asymmetric submillimeter flux distribution. H-band polarized intensity images show a similar to 60 AU radius scattered light cavity with two pronounced arcs of emission, one from northeast to southeast and one smaller, fainter, and more distant arc in the northwest. K-band scattered light imagery reveals a similar morphology, but with a clear third arc along the southwestern rim of the disk cavity. This arc meets the northwestern arc at nearly a right angle, revealing the presence of a spiral arm or local surface brightness deficit in the disk, and explaining the east-west brightness asymmetry in the H-band data. We also present 0.8-5.4 mu m IRTF SpeX spectra of this object, which allow us to constrain the spectral class to A0 +/- 1 and measure a low mass accretion rate of 10(-8.5) M-circle dot yr(-1), both consistent with previous estimates. We investigate a variety of reddening laws in order to fit the multiwavelength spectral energy distribution of Oph IRS 48 and find a best fit consistent with a younger, higher luminosity star than previous estimates.
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| 19. |
- Miller, David T., et al.
(author)
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Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- 2010
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 86:5, s. 749-764
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Journal article (peer-reviewed)abstract
- Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype (similar to 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.
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| 20. |
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| 21. |
- Campbell, D. B., et al.
(author)
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Rotational structures and their evolution with spin in Gd-152
- 2007
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In: Physical Review C (Nuclear Physics). - 0556-2813. ; 75:6
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Journal article (peer-reviewed)abstract
- The fusion-evaporation reaction involving a 175 MeV S-36 beam and a Sn-124 target was performed, and the emitted gamma rays were observed with the Gammasphere spectrometer. Significant additions to the level scheme of Gd-152 were made in spite of the relative weakness of the alpha 4n exit channel, being only similar to 2% of the total fusion cross-section. The high-spin behavior of Gd-152 was compared with that of other N=88 nuclei. A striking similarity was observed with Dy-154 and it is therefore suggested that the angular-momentum-induced shape changes that take place in Dy-154 also occur in Gd-152 in the 30-40h spin range. This is supported by Cranked Nilsson-Strutinsky calculations which were used to interpret the high-spin bands. It is found that a better agreement between calculation and experiment is obtained if the Z=64 shell gap increases with a decreasing number of valence particles outside the doubly-closed Gd-146(64)82 nucleus.
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| 22. |
- Green, Damian J, et al.
(author)
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Astatine-211 conjugated to an anti-CD20 monoclonal antibody eradicates disseminated B-cell lymphoma in a mouse model.
- 2015
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In: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 125:13, s. 2111-9
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Journal article (peer-reviewed)abstract
- α-Emitting radionuclides deposit a large amount of energy within a few cell diameters and may be particularly effective for radioimmunotherapy targeting minimal residual disease (MRD). To evaluate this hypothesis, (211)At-labeled 1F5 monoclonal antibody (mAb) (anti-CD20) was studied in both bulky lymphoma tumor xenograft and MRD animal models. Superior treatment responses to (211)At-labeled 1F5 mAb were evident in the MRD setting. Lymphoma xenograft tumor-bearing animals treated with doses of up to 48 µCi of (211)At-labeled anti-CD20 mAb ([(211)At]1F5-B10) experienced modest responses (0% cures but two- to threefold prolongation of survival compared with negative controls). In contrast, 70% of animals in the MRD lymphoma model demonstrated complete eradication of disease when treated with (211)At-B10-1F5 at a radiation dose that was less than one-third (15 µCi) of the highest dose given to xenograft animals. Tumor progression among untreated control animals in both models was uniformly lethal. After 130 days, no significant renal or hepatic toxicity was observed in the cured animals receiving 15 µCi of [(211)At]1F5-B10. These findings suggest that α-emitters are highly efficacious in MRD settings, where isolated cells and small tumor clusters prevail.
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| 23. |
- Krebs, Frederik C, et al.
(author)
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A round robin study of flexible large-area roll-to-roll processed polymer solar cell modules
- 2009
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In: SOLAR ENERGY MATERIALS AND SOLAR CELLS. - : Elsevier BV. - 0927-0248. ; 93:11, s. 1968-1977
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Journal article (peer-reviewed)abstract
- A round robin for the performance of roll-to-roll coated flexible large-area polymer solar-cell modules involving 18 different laboratories in Northern America, Europe and Middle East is presented. The study involved the performance measurement of the devices at one location (Riso DTU) followed by transportation to a participating laboratory for performance measurement and return to the starting location (Riso DTU) for re-measurement of the performance. It was found possible to package polymer solar-cell modules using a flexible plastic barrier material in such a manner that degradation of the devices played a relatively small role in the experiment that has taken place over 4 months. The method of transportation followed both air-mail and surface-mail paths.
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| 24. |
- Simpson, J., et al.
(author)
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Discrete line γ-ray spectroscopy in the (50-60)ℏ spin domain of 161,162Er
- 2000
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In: Physical Review C - Nuclear Physics. - 0556-2813. ; 62:2, s. 243211-243218
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Journal article (peer-reviewed)abstract
- Very high spin states (I=50-60ℏ) have been observed in the transitional nuclei 161Er and 162Er using the Euroball γ-ray spectrometer. In 161Er, three bands are observed well above spin 50ℏ. In the positive parity, positive signature (+, + 1/2) band a discontinuity in the regular rotational behavior occurs at 109/2+ and a splitting into two branches occurs at 97/2- in the negative parity, positive signature (-, + 1/2) band. The ( -, - 1/2) band continues in a regular fashion to 115/2-, tentatively (119/2-). In 162Er the positive parity, even spin (+, 0) yrast band is observed to continue smoothly up to 58+ (60+) and the negative parity, even spin (-,0) and odd spin (-,1) bands are extended from 30- to 34- and from 31- to 47- (49-), respectively. The high spin experimental spectra are compared with both a simple model involving the occupation of specific single neutron states in the absence of neutron pair correlations and with more detailed cranked Nilsson-Strutinsky calculations in which both proton and neutron pairing correlations are neglected. The very high spin domain is found to comprise a series of unpaired rotational bands. Unpaired band crossings between bands with different neutron and proton configurations are identified in 161Er. There is no evidence for aligned oblate or terminating states being close to the yrast line in 161,162Er up to spin ≈60ℏ in contrast to the lighter Er isotopes.
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