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- Palmer, Duncan S., et al.
(författare)
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Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia
- 2022
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 54:5, s. 541-547
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Tidskriftsartikel (refereegranskat)abstract
- We report results from the Bipolar Exome (BipEx) collaboration analysis of whole-exome sequencing of 13,933 patients with bipolar disorder (BD) matched with 14,422 controls. We find an excess of ultra-rare protein-truncating variants (PTVs) in patients with BD among genes under strong evolutionary constraint in both major BD subtypes. We find enrichment of ultra-rare PTVs within genes implicated from a recent schizophrenia exome meta-analysis (SCHEMA; 24,248 cases and 97,322 controls) and among binding targets of CHD8. Genes implicated from genome-wide association studies (GWASs) of BD, however, are not significantly enriched for ultra-rare PTVs. Combining gene-level results with SCHEMA, AKAP11 emerges as a definitive risk gene (odds ratio (OR) = 7.06, P = 2.83 × 10−9). At the protein level, AKAP-11 interacts with GSK3B, the hypothesized target of lithium, a primary treatment for BD. Our results lend support to BD’s polygenicity, demonstrating a role for rare coding variation as a significant risk factor in BD etiology.
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- Langlet, David, 1977, et al.
(författare)
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Energy efficient transition in Sweden: triggers and barriers for retrofitting processes in municipality owned housing companies
- 2014
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Ingår i: ENHR Edinburgh July 1-4, 2014. Book of abstracts.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Globally and in Europe, the housing sector is responsible for a large share of the energy use, and large efforts have therefore been directed towards reduced energy use in the housing sector. In Sweden 39 percent of the energy use relate to “housing and business locations”, there is an ambition to reduce the energy use with 20 percent until year 2020, following the EU directive of energy efficiency. However, the national government has up to present responded quite hesitantly to the energy efficiency debate, possibly as the National Institute of Economic Research (NIER) claims that relevant transition measures will be met regardless of any specific measures directed to the sector of housing. Yet, the project group Collaborative learning for urban energy efficiency (the ClueE-project) has studied a number of examples where energy efficient retrofitting takes place in sub-urban areas. A central question for the overall project was: What are the major triggers and barriers in retrofitting processes, with special regards to the social sciences? From a financial point of view, the costs of energy efficient retrofitting are demanding, as most of the heating in these areas to 90 percent are sustainable district-heating. But seen from the perspective of the ‘third generation of energy policies’, there is an increasing potential today for local energy production solutions, zero-houses, or even houses that generates a surplus of energy, energy-plus-houses. The judicial tools used in these processes does not relate to minimum quality levels, rather, a more conscious use of the public procurement act is activated, as wise use of partnering contracting. The ClueE study also found that it is not specifically environmentally interested tenants that have been attracted by the energy efficient apartments, rather that has been the opportunity at hand. The lower ecological footprints of these tenants are supported as these groups are among the poorest segments of the population. To conclude, the core triggers found were: the necessity of broad political anchoring across majority and opposition, inclusive and transparent tenant-dialogues, comparable indicators in relation to evaluations and benchmarking. A more general conclusion is that more attention needs to be directed towards business locations, as the private homes’ market.
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- Eljammaly, Mahmoud, et al.
(författare)
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An auto-tuning framework for a NUMA-aware Hessenberg reduction algorithm
- 2017
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- The performance of a recently developed Hessenberg reduction algorithm greatly depends on the values chosen for its tunable parameters. The search space is huge combined with other complications makes the problem hard to solve effectively with generic methods and tools. We describe a modular auto-tuning framework in which the underlying optimization algorithm is easy to substitute. The framework exposes sub-problems of standard auto-tuning type for which existing generic methods can be reused. The outputs of concurrently executing sub-tuners are assembled by the framework into a solution to the original problem.
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- Kiliaridis, Stavros, 1955, et al.
(författare)
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Pain and discomfort in orthodontics.
- 2004
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Ingår i: Graber, T. M., Eliades,T. & Athanasiou, A.E. (red). Risk management in orthodontics: experts guide to malpractice. - Chicago : Quintessence. - 0867154314
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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