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- 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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| 4. |
- Estanqueiro, A., et al.
(författare)
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Energy storage for wind integration : Hydropower and other contributions
- 2012
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Ingår i: Power and Energy Society General Meeting, 2012 IEEE. - : IEEE. - 9781467327275 ; , s. 6344652-
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Konferensbidrag (refereegranskat)abstract
- The amount of wind power and other timevariable non-dispatchable renewable energy sources (RES) is rapidly increasing in the world. A few power systems are already facing very high penetrations from variable renewables which can surpass the systems' consumption during no-load periods, requiring the energy excess to be curtailed, exported or stored. The limitations of electric energy storage naturally lead to the selection of the well-known form of storing potential energy in reservoirs of reversible hydropower stations, although other technologies such as heat storage are also being used successfully. This paper reviews the storage technologies that are available and may be used on a power system scale and compares their advantages and disadvantages for the integration of fast-growing renewables, such as wind power, with a special focus on the role of pumped hydro storage.
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| 5. |
- Flynn, Terry Nicholas, et al.
(författare)
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Using discrete choice experiments to understand preferences for quality of life. Variance-scale heterogeneity matters.
- 2010
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Ingår i: Social Science and Medicine. - : Elsevier BV. - 0277-9536 .- 1873-5347. ; 70:12, s. 1957-65
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Tidskriftsartikel (refereegranskat)abstract
- Health services researchers are increasingly using discrete choice experiments (DCEs) to model a latent variable, be it health, health-related quality of life or utility. Unfortunately it is not widely recognised that failure to model variance heterogeneity correctly leads to bias in the point estimates. This paper compares variance heterogeneity latent class models with traditional multinomial logistic (MNL) regression models. Using the ICECAP-O quality of life instrument which was designed to provide a set of preference-based general quality of life tariffs for the UK population aged 65+, it demonstrates that there is both mean and variance heterogeneity in preferences for quality of life, which covariate-adjusted MNL is incapable of separating. Two policy-relevant mean groups were found: one group that particularly disliked impairments to independence was dominated by females living alone (typically widows). Males who live alone (often widowers) did not display a preference for independence, but instead showed a strong aversion to social isolation, as did older people (of either sex) who lived with a spouse. Approximately 6-10% of respondents can be classified into a third group that often misunderstood the task. Having a qualification of any type and higher quality of life was associated with smaller random component variances. This illustrates how better understanding of random utility theory enables richer inferences to be drawn from discrete choice experiments. The methods have relevance for all health studies using discrete choice tasks to make inferences about a latent scale, particular QALY valuation exercises that use DCEs, best-worst scaling and ranking tasks.
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| 6. |
- Mayers, Joshua, 1988, et al.
(författare)
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Influence of the N: P supply ratio on biomass productivity and time-resolved changes in elemental and bulk biochemical composition of Nannochloropsis sp.
- 2014
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Ingår i: Bioresource Technology. - : Elsevier BV. - 0960-8524 .- 1873-2976. ; 169, s. 588-595
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Tidskriftsartikel (refereegranskat)abstract
- This work reports for the first time the detailed impacts of dual nitrogen (N) and phosphorus (P) stress on growth dynamics and biochemical composition in the Eustigmatophyte Nannochloropsis sp. P-stress concurrent with N-stress had subtle effects on culture bulk biochemical composition, but negatively influenced biomass productivity. However, the N:P supply ratio can be raised to at least 32:1 without compromising productivity (yielding a maximum lipid content of 52% of dry weight and volumetric lipid concentration of 233mgL-1). The maximum biomass and lipid yields per unit of cell-P were 1.2kgDW (gP)-1 and 0.54kglipid (gP)-1. The P concentration of many common media is thus in surplus for optimal Nannochloropsis sp. biomass and lipid production, offering potential for significant savings in P usage and improving the sustainability of algal cultivation. © 2014 Elsevier Ltd.
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| 7. |
- Mayers, Joshua, 1988, et al.
(författare)
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Rapid determination of bulk microalgal biochemical composition by Fourier-Transform Infrared spectroscopy
- 2013
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Ingår i: Bioresource Technology. - : Elsevier BV. - 0960-8524 .- 1873-2976. ; 148, s. 215-220
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Tidskriftsartikel (refereegranskat)abstract
- Analysis of bulk biochemical composition is a key in fundamental and applied studies of microalgae and is essential to understanding responses to different cultivation scenarios. Traditional biochemical methods for the quantification of lipids, carbohydrates and proteins are often time-consuming, often involve hazardous reagents, require significant amounts of biomass and are highly dependent on practitioner proficiency. This study presents a rapid and non-destructive method, utilising Fourier-Transform Infrared (FTIR) spectroscopy for the simultaneous determination of lipid, protein and carbohydrate content in microalgal biomass. A simple univariate regression was applied to sets of reference microalgal spectra of known composition and recognised IR peak integrals. A robust single-species model was constructed, with coefficients of determination r2>0.95, high predictive accuracy and relative errors below 5%. The applicability of this methodology is demonstrated by monitoring the time-resolved changes in biochemical composition of the marine alga Nannochloropsis sp. grown to nitrogen starvation. © 2013 Elsevier Ltd.
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| 8. |
- McMeeking, G. R., et al.
(författare)
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Black carbon measurements in the boundary layer over western and northern Europe
- 2010
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Ingår i: Atmospheric Chemistry And Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 10:19, s. 9393-9414
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Tidskriftsartikel (refereegranskat)abstract
- Europe is a densely populated region that is a significant global source of black carbon (BC) aerosol, but there is a lack of information regarding the physical properties and spatial/vertical distribution of rBC in the region. We present the first aircraft observations of sub-micron refractory BC (rBC) aerosol concentrations and physical properties measured by a single particle soot photometer (SP2) in the lower troposphere over Europe. The observations spanned a region roughly bounded by 50 degrees to 60 degrees N and from 15 degrees W to 30 degrees E. The measurements, made between April and September 2008, showed that average rBC mass concentrations ranged from about 300 ng m(-3) near urban areas to approximately 50 ng m(-3) in remote continental regions, lower than previous surface-based measurements. rBC represented between 0.5 and 3% of the sub-micron aerosol mass. Black carbon mass size distributions were log-normally distributed and peaked at approximately 180 nm, but shifted to smaller diameters (similar to 160 nm) near source regions. rBC was correlated with carbon monoxide (CO) but had different ratios to CO depending on location and air mass. Light absorption coefficients were measured by particle soot absorption photometers on two separate aircraft and showed similar geographic patterns to rBC mass measured by the SP2. We summarize the rBC and light absorption measurements as a function of longitude and air mass age and also provide profiles of rBC mass concentrations and size distribution statistics. Our results will help evaluate model-predicted regional rBC concentrations and properties and determine regional and global climate impacts from rBC due to atmospheric heating and surface dimming.
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