| 1. |
- Mahajan, Anubha, et al.
(författare)
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Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
- 2022
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Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 54:5, s. 560-572
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Tidskriftsartikel (refereegranskat)abstract
- We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls (48.9% non-European descent) through the Diabetes Meta-Analysis of Trans-Ethnic association studies (DIAMANTE) Consortium. Multi-ancestry GWAS meta-analysis identified 237 loci attaining stringent genome-wide significance (P < 5 x 10(-9)), which were delineated to 338 distinct association signals. Fine-mapping of these signals was enhanced by the increased sample size and expanded population diversity of the multi-ancestry meta-analysis, which localized 54.4% of T2D associations to a single variant with >50% posterior probability. This improved fine-mapping enabled systematic assessment of candidate causal genes and molecular mechanisms through which T2D associations are mediated, laying the foundations for functional investigations. Multi-ancestry genetic risk scores enhanced transferability of T2D prediction across diverse populations. Our study provides a step toward more effective clinical translation of T2D GWAS to improve global health for all, irrespective of genetic background. Genome-wide association and fine-mapping analyses in ancestrally diverse populations implicate candidate causal genes and mechanisms underlying type 2 diabetes. Trans-ancestry genetic risk scores enhance transferability across populations.
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| 2. |
- Davidsson, Björn J. R., et al.
(författare)
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Interpretation of thermal emission. I. The effect of roughness for spatially resolved atmosphereless bodies
- 2015
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Ingår i: Icarus. - : Elsevier BV. - 0019-1035 .- 1090-2643. ; 252, s. 1-21
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Tidskriftsartikel (refereegranskat)abstract
- Spacecraft observations of atmosphereless Solar System bodies, combined with thermophysical modeling, provide important information about the thermal inertia and degree of surface roughness of these bodies. The thermophysical models rely on various methods of generating topography, the most common being the concave spherical segment. We here compare the properties of thermal emission for a number of different topographies - concave spherical segments, random Gaussians, fractals and parallel sinusoidal trenches - for various illumination and viewing geometries, degrees of surface roughness and wavelengths. We find that the thermal emission is strongly dependent on roughness type, even when the degrees of roughness are identical, for certain illumination and viewing geometries. The systematic usage of any single topography model may therefore bias determinations of thermal inertia and level of roughness. We outline strategies that may be employed during spacecraft observations to disentangle thermal inertia, level of roughness and type of topography. We also compare the numerically complex and time consuming full-scale thermophysical models with a simplified statistical approach, which is fairly easy to implement and quick to run. We conclude that the simplified statistical approach is similar to thermophysical models for cases tested here, which enables the user to analyze huge amounts of spectral data at a low numerical cost.
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