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- 2019
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Journal article (peer-reviewed)
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| 2. |
- Abbafati, Cristiana, et al.
(author)
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- 2020
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Journal article (peer-reviewed)
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| 3. |
- Craddock, Nick, et al.
(author)
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
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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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| 4. |
- Ali, Moamen, et al.
(author)
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Geometry and kinematics of the Middle to Late Miocene salt tectonics, central Egyptian Red Sea margin
- 2023
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In: Journal of Structural Geology. - : Elsevier. - 0191-8141 .- 1873-1201. ; 176
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Journal article (peer-reviewed)abstract
- The Red Sea basin includes a thick Middle to Late Miocene evaporitic succession that underwent halokinesis and caused intensive reshaping of the seafloor and the development of salt-tectonic structures. However, the ge-ometry and kinematics of these structures are still poorly understood. This study uses 2D and 3D seismic surveys and well data of the northern Egyptian Red Sea to systematically describe the distribution and morphology of salt structures, discuss their initiation, and construct a kinematic model for their origin. Our results indicate that the massive salt layer developed into five major NW-SE to NNE-SSW trending salt walls, characterized by relatively irregular crests and moderately dipping flanks. In addition, several symmetrical and asymmetrical folds and two categories of normal faults (subsalt and suprasalt) have been recognized. Based on our observations, salt mobilization in the study area started in the Late Miocene, during the precipitation of layered evaporites, and continued until the present day. In the northern Egyptian Red Sea, seismic interpretation indicates that hal-okinesis was triggered by a combination of thin-and thick-skinned systems, where the latter played a major role. The salt layer was welded during the Quaternary as several sags and grabens developed above the salt diapirs. Thick-skinned physical models are compatible with our observations, supporting the impact of basement faulting on Red Sea diapirism.
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| 5. |
- Andersson, Hanna, 1991-, et al.
(author)
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The negative footprint illusion is exacerbated by the numerosity of environment-friendly additions: unveiling the underpinning mechanisms
- 2024
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In: Journal of Cognitive Psychology. - : Taylor & Francis. - 2044-5911 .- 2044-592X. ; 36:2, s. 295-307
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Journal article (peer-reviewed)abstract
- The addition of environmentally friendly items to conventional items sometimes leads people to believe that the carbon footprint of the entire set decreases rather than increases. This negative footprint illusion is supposedly underpinned by an averaging bias: people base environmental impact estimates not on the total impact of items but on their average. Here, we found that the illusion's magnitude increased with the addition of a greater number of "green" items when the number of conventional items remained constant (Studies 1 and 2), supporting the averaging-bias account. We challenged this account by testing what happens when the number of items in the conventional and "green" categories vary while holding the ratio between the two categories constant (Study 3). At odds with the averaging-bias account, the magnitude of the illusion increased as the category size increased, revealing a category-size bias, and raising questions about the interplay between these biases in the illusion.
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