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- Weiner, D. J., et al.
(författare)
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
- 2017
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:7, s. 978-
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways.
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- Pye, Steve, et al.
(författare)
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Assessing qualitative and quantitative dimensions of uncertainty in energy modelling for policy support in the United Kingdom
- 2018
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Ingår i: Energy Research & Social Science. - : Elsevier. - 2214-6296 .- 2214-6326. ; 46:June, s. 332-344
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Tidskriftsartikel (refereegranskat)abstract
- Strategic planning for the low carbon energy transition is characterised by a high degree of uncertainty across many knowledge domains and by the high stakes involved in making decisions. Energy models can be used to assist decision makers in making robust choices that reflect the concerns of many interested stakeholders. Quantitative model insights alone, however, are insufficient as some dimensions of uncertainty can only be assessed via qualitative approaches. This includes the strength of the knowledge base underlying the models, and the biases and value-ladenness brought into the process based on the modelling choices made by users. To address this deficit in current modelling approaches in the UK context, we use the NUSAP (Numeral Unit Spread Assessment Pedigree) approach to qualify uncertainty in the energy system model, ESME. We find that a range of critical model assumptions that are highly influential on quantitative model results have weaknesses, or low pedigree scores, in aspects of the knowledge base that underpins them, and are subject to potential value-ladenness. In the case of the UK, this includes assumptions around CCS deployment and bioenergy resources, both of which are highly influential in driving model outcomes. These insights are not only crucial for improving the use of models in policy-making and providing a more comprehensive understanding of uncertainty in models, but also help to contextualise quantitative results, and identify priority future research areas for improving the knowledge base used in modelling. The NUSAP approach also promotes engagement across a broader set of stakeholders in the analytical process, and opens model assumptions up to closer scrutiny, thereby contributing to transparency.
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- Sridharan, Vignesh, et al.
(författare)
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Resilience of the Eastern African electricity sector to climate driven changes in hydropower generation
- 2019
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Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- Notwithstanding current heavy dependence on gas-fired electricity generation in the Eastern African Power Pool (EAPP), hydropower is expected to play an essential role in improving electricity access in the region. Expansion planning of electricity infrastructure is critical to support investment and maintaining balanced consumer electricity prices. Variations in water availability due to a changing climate could leave hydro infrastructure stranded or result in underutilization of available resources. In this study, we develop a framework consisting of long-term models for electricity supply and water systems management, to assess the vulnerability of potential expansion plans to the effects of climate change. We find that the most resilient EAPP rollout strategy corresponds to a plan optimised for a slightly wetter climate compared to historical trends. This study demonstrates that failing to climate-proof infrastructure investments can result in significant electricity price fluctuations in selected countries (Uganda & Tanzania) while others, such as Egypt, are less vulnerable.
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