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- Joshi, Peter K, et al.
(författare)
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Directional dominance on stature and cognition in diverse human populations
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 523:7561, s. 459-462
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Tidskriftsartikel (refereegranskat)abstract
- Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10(-300), 2.1 × 10(-6), 2.5 × 10(-10) and 1.8 × 10(-10), respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months' less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been.
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- Zuntini, Alexandre R., et al.
(författare)
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Phylogenomics and the rise of the angiosperms
- 2024
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Ingår i: NATURE. - 0028-0836 .- 1476-4687. ; 629, s. 843-850
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Tidskriftsartikel (refereegranskat)abstract
- Angiosperms are the cornerstone of most terrestrial ecosystems and human livelihoods(1,2). A robust understanding of angiosperm evolution is required to explain their rise to ecological dominance. So far, the angiosperm tree of life has been determined primarily by means of analyses of the plastid genome(3,4). Many studies have drawn on this foundational work, such as classification and first insights into angiosperm diversification since their Mesozoic origins(5-7). However, the limited and biased sampling of both taxa and genomes undermines confidence in the tree and its implications. Here, we build the tree of life for almost 8,000 (about 60%) angiosperm genera using a standardized set of 353 nuclear genes(8). This 15-fold increase in genus-level sampling relative to comparable nuclear studies(9) provides a critical test of earlier results and brings notable change to key groups, especially in rosids, while substantiating many previously predicted relationships. Scaling this tree to time using 200 fossils, we discovered that early angiosperm evolution was characterized by high gene tree conflict and explosive diversification, giving rise to more than 80% of extant angiosperm orders. Steady diversification ensued through the remaining Mesozoic Era until rates resurged in the Cenozoic Era, concurrent with decreasing global temperatures and tightly linked with gene tree conflict. Taken together, our extensive sampling combined with advanced phylogenomic methods shows the deep history and full complexity in the evolution of a megadiverse clade.
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- Evangelou, Evangelos, et al.
(författare)
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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
- 2018
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 50:10, s. 1412-1425
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Tidskriftsartikel (refereegranskat)abstract
- High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future.
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- Abbafati, Cristiana, et al.
(författare)
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- 2020
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Tidskriftsartikel (refereegranskat)
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- Eder, Gabriele, et al.
(författare)
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Coloured BIPV : Market, Research and Development
- 2019
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- In the building sector, net-zero energy performance targets and reduction of CO2 emissions are the main drivers for building integrated photovoltaics. Recent market studies [10,18,19] show the history and perspective of the global market in the BIPV sector and calculate a global compound annual growth rate of ~ 40 % from 2009 up to 2020.In Europe, the BIPV market is in a transition. The past decades of a slowly emerging BIPV market have been characterized by the original dominant value of BIPV: a building that communicates an image of sustainability and innovation. Payback time or "return on investment" have not been the major parameters in the decision process for applying BIPV. This is changing now. In most European countries, the new regulations on energy performance in buildings (derived from the European Energy Performance of Buildings Directive and the Directive on energy efficiency) have been translated in national regulations/laws, stating that all new (and freshly refurbished) buildings of the EU member states should be nearly zero energy buildings (nZEBs) by 2020. Thus, the time for the regulations to become mandatory is very near. It is expected that the energy performance regulations are now taking over as the main driving factor for the BIPV market and that should have huge consequences in removing the difference between a conventional building component and a BIPV component both in aesthetical and construction terms. This has led to intensified research and development aiming to create BIPV products that come in a variety of colours and sizes, while at the same time being as close as possible to existing building components, to its requirements and how it is considered by the construction industry.The given market overview of state-of-the-art coloured BIPV products clearly reveals that for all parts of a BIPV module (glass, polymers, PV-active layers), there are technical solutions available for colouring. Pilot projects utilizing coloured BIPV products have been built in numerous (mainly European) cities clearly demonstrating the maturity of these solutions.The key aspect that has been slowing down the progress of implementation of these aesthetically appealing and technically sophisticated new products into a wider market are the costs. In this respect, a lot of effort has been made to improve and optimize the relationship between colour and efficiency/power generation of BIPV elements. The results of the past and on-going innovative research and intensified fundamental considerations are also summarized in this report.Besides the colour perception of the coloured BIPV elements under solar irradiation which is essential for the acceptance of the exterior appearance of a building, also transparency and inside visual comfort of BIPV – windows and façade elements are essential for the users and inhabitants.
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- Jonsson, Jacob, 1974-
(författare)
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Optical Characterisation of Miniature Structures and Translucent Sheets for Daylighting Applications
- 2004
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- For a long time spectrophotometry has been a powerful method of determining optical material properties. Since the technique measures the parameters of interest, reflectance and transmittance, it is in general easy to use and interpret. Certain materials, such as miniature structures or scattering materials, must be given a more careful analysis to avoid incorrect interpretation. General solutions to measurement challenges for thick scattering samples and anisotropically scattering samples are presented.Thorough knowledge about the components of a spectrophotometer gives a solid base which is necessary when trying to design or modify an instrument for the characterisation of miniature components. Focusing optics and pinhole apertures are two methods investigated for studying samples on a millimeter scale. Focusing optics retain a high intensity but might cause internal reflection. Pinhole apertures are easy to build into a sample holder, but they will reduce light intensity which can give problems with signal to noise ratio. Using a microscope as a focusing lens system permits the measurement of samples of a size down to the order of ten micrometers. However, absolute measurements are difficult due to the strong focusing properties of the microscope.Translucent sheets are of interest for daylighting applications, a growing field in today's energy-conscious society. If sunlight is to be used for indoor illumination it is preferable to make it diffuse. By using Transparent Refractive Index Matched Micro (TRIMM) particles in a transparent polymer sheet, it is possible to obtain high transmittance in combination with tailorability of the scattering profile. Such sheets have been characterised experimentally, as well as by Monte Carlo raytracing simulations. The good agreement between simulation and experiment shows that this type of simulation can be used in the materials design process. A more theoretical study of patterns in multiple Mie scattering has been carried out using the Monte Carlo program developed for characterisation of the TRIMM particle sheets.
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| 10. |
- Locke, Adam E, et al.
(författare)
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Genetic studies of body mass index yield new insights for obesity biology.
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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