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- Aad, G, et al.
(author)
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- 2015
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swepub:Mat__t
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- Clark, DW, et al.
(author)
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Associations of autozygosity with a broad range of human phenotypes
- 2019
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
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Journal article (peer-reviewed)abstract
- In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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- Wuttke, Matthias, et al.
(author)
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A catalog of genetic loci associated with kidney function from analyses of a million individuals
- 2019
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In: Nature Genetics. - : NATURE PUBLISHING GROUP. - 1061-4036 .- 1546-1718. ; 51:6, s. 957-972
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Journal article (peer-reviewed)abstract
- Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
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- Luckrin, J. M., et al.
(author)
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A synthesis of hybrid RANS/LES CFD results for F-16XL aircraft aerodynamics
- 2015
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In: 33rd AIAA Applied Aerodynamics Conference. - Reston, Virginia : American Institute of Aeronautics and Astronautics (AIAA). - 9781624103636
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Conference paper (peer-reviewed)abstract
- A synthesis is presented of recent numerical predictions for the F-16XL aircraft flow fields and aerodynamics. The computational results were all performed with hybrid RANS/LES formulations, with an emphasis on unsteady flows and subsequent aerodynamics, and results from five computational methods are included. The work was focused on one particular low-speed, high angle-of-attack flight test condition, and comparisons against flight-test data are included. This work represents the third coordinated effort using the F-16XL aircraft, and a unique flight-test data set, to advance our knowledge of slender airframe aerodynamics as well as our capability for predicting these aerodynamics with advanced CFD formulations. The prior efforts were identified as Cranked Arrow Wing Aerodynamics Project International, with the acronyms CAWAPI and CAWAPI-2.
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- Luckring, James M., et al.
(author)
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Synthesis of Hybrid Computational Fluid Dynamics Results for F-16XL Aircraft Aerodynamics
- 2017
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In: Journal of Aircraft. - 0021-8669 .- 1533-3868. ; 54:6, s. 2100-2114
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Journal article (peer-reviewed)abstract
- A synthesis is presented of recent numerical predictions for the F-16XL aircraft flowfields and aerodynamics. The computational analyses were all performed with hybrid Reynolds-averaged Navier-Stokes/large-eddy simulation formulations, with an emphasis on unsteady flows and associated aerodynamics, and results from five computational methods are included. The work focused on one particular low-speed high angle-of-attack flight-test condition, and comparisons against flight-test data are included. This work represents the third coordinated effort using the F-16XL aircraft, and a unique flight-test dataset, to advance the knowledge of slender airframe aerodynamics as well as the capability for predicting these aerodynamics with advanced computational fluid dynamics formulations. The prior efforts were identified as the Cranked-Arrow Wing Aerodynamics Project International.
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