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| 2. |
- Craddock, Nick, et al.
(författare)
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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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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
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Tidskriftsartikel (refereegranskat)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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| 3. |
- Kehoe, Laura, et al.
(författare)
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Make EU trade with Brazil sustainable
- 2019
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 4. |
- Newell, Felicity, et al.
(författare)
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Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets
- 2019
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- Knowledge of key drivers and therapeutic targets in mucosal melanoma is limited due to the paucity of comprehensive mutation data on this rare tumor type. To better understand the genomic landscape of mucosal melanoma, here we describe whole genome sequencing analysis of 67 tumors and validation of driver gene mutations by exome sequencing of 45 tumors. Tumors have a low point mutation burden and high numbers of structural variants, including recurrent structural rearrangements targeting TERT, CDK4 and MDM2. Significantly mutated genes are NRAS, BRAF, NF1, KIT, SF3B1, TP53, SPRED1, ATRX, HLA-A and CHD8. SF3B1 mutations occur more commonly in female genital and anorectal melanomas and CTNNB1 mutations implicate a role for WNT signaling defects in the genesis of some mucosal melanomas. TERT aberrations and ATRX mutations are associated with alterations in telomere length. Mutation profiles of the majority of mucosal melanomas suggest potential susceptibility to CDK4/6 and/or MEK inhibitors.
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| 5. |
- Ferrari, Maud C. O., et al.
(författare)
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Effects of turbidity and an invasive waterweed on predation by introduced largemouth bass
- 2014
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Ingår i: Environmental Biology of Fishes. - : Springer Science and Business Media LLC. - 0378-1909 .- 1573-5133. ; 97:1, s. 79-90
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Tidskriftsartikel (refereegranskat)abstract
- Anthropogenic activities lead to changes in characteristics of aquatic ecosystems, including alteration of turbidity and addition of invasive species. In this study, we tested how changes in turbidity and the recent invasion of an aquatic macrophyte, Egeria densa, may have changed the predation pressure by introduced largemouth bass on juvenile striped bass and delta smelt, two species that have seen a drastic decline in recent decades in the Sacramento-San Joaquin Delta. In a series of mesocosm experiments, we showed that increases in vegetation density decreased the predation success of largemouth bass. When placed in an environment with both open water and vegetated areas, and given a choice to forage on prey associated with either of these habitats, largemouth bass preyed mainly on open water species as opposed to vegetation-associated species, such as juvenile largemouth bass, bluegill or red swamp crayfish. Finally, we showed that turbidity served as cover to open water species and increased the survival of delta smelt, an endemic species at risk. We also found that such open water prey tend not to seek refuge in the vegetation cover, even in the presence of an imminent predation threat. These results provide the beginning of a mechanistic framework to explain how decreases in turbidity and increases in vegetation cover correlate with a decline of open water species in the Sacramento-San Joaquin Delta.
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| 6. |
- Telloni, Daniele, et al.
(författare)
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Observation of a Magnetic Switchback in the Solar Corona
- 2022
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Ingår i: Astrophysical Journal Letters. - : Institute of Physics (IOP). - 2041-8205 .- 2041-8213. ; 936:2
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Tidskriftsartikel (refereegranskat)abstract
- Switchbacks are sudden, large radial deflections of the solar wind magnetic field, widely revealed in interplanetary space by the Parker Solar Probe. The switchbacks' formation mechanism and sources are still unresolved, although candidate mechanisms include Alfvenic turbulence, shear-driven Kelvin-Helmholtz instabilities, interchange reconnection, and geometrical effects related to the Parker spiral. This Letter presents observations from the Metis coronagraph on board a Solar Orbiter of a single large propagating S-shaped vortex, interpreted as the first evidence of a switchback in the solar corona. It originated above an active region with the related loop system bounded by open-field regions to the east and west. Observations, modeling, and theory provide strong arguments in favor of the interchange reconnection origin of switchbacks. Metis measurements suggest that the initiation of the switchback may also be an indicator of the origin of slow solar wind.
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