| 1. |
- Lee, James J, et al.
(författare)
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Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
- 2018
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 50:8, s. 1112-1121
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Tidskriftsartikel (refereegranskat)abstract
- Here we conducted a large-scale genetic association analysis of educational attainment in a sample of approximately 1.1million individuals and identify 1,271independent genome-wide-significant SNPs. For the SNPs taken together, we found evidence of heterogeneous effects across environments. The SNPs implicate genes involved in brain-development processes and neuron-to-neuron communication. In a separate analysis of the X chromosome, we identify 10independent genome-wide-significant SNPs and estimate a SNP heritability of around 0.3% in both men and women, consistent with partial dosage compensation. A joint (multi-phenotype) analysis of educational attainment and three related cognitive phenotypes generates polygenic scores that explain 11-13% of the variance in educational attainment and 7-10% of the variance in cognitive performance. This prediction accuracy substantially increases the utility of polygenic scores as tools in research.
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| 2. |
- Liu, Shengchun, et al.
(författare)
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Energetic, economic and environmental analysis of air source transcritical CO2 heat pump system for residential heating in China
- 2019
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Ingår i: Applied Thermal Engineering. - : Elsevier BV. - 1359-4311 .- 1873-5606. ; 148, s. 1425-1439
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Tidskriftsartikel (refereegranskat)abstract
- Using air source heat pump system for residential heating is a practical way to replace coal-fired boiler in China to alleviate the haze problem, and CO2 is a promising candidate to replace hydrochlorofluorocarbon (HCFC) or hydrofluorocarbon (HFCs) charged into the system. A mathematical model is developed to comprehensively evaluate the energetic, economical and environmental performances of CO2 heat pump system compared with other three traditional heating methods. The results indicate that the primary energy ratio of CO2 heat pump is the highest and it is a rational way to utilize renewable energy with the renewable energy contribution ratio of 0.60–0.69. The initial capital cost of CO2 heat pump is much higher due to the dominant compressor cost. The emission of CO2 heat pump is lower than that of coal-fired boiler at seasonal performance factor above 2.44. The initial and operation cost can be gradually reduced with the mass production and energy efficiency improvement of CO2 heat pump. It is believe that air source CO2 heat pump system can be employed for home heating in China, especial for the hot summer and cold winter region.
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| 3. |
- Sullivan, Patrick F., et al.
(författare)
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Leveraging base-pair mammalian constraint to understand genetic variation and human disease
- 2023
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 380:6643, s. 367-
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Tidskriftsartikel (refereegranskat)abstract
- Thousands of genomic regions have been associated with heritable human diseases, but attempts to elucidate biological mechanisms are impeded by an inability to discern which genomic positions are functionally important. Evolutionary constraint is a powerful predictor of function, agnostic to cell type or disease mechanism. Single-base phyloP scores from 240 mammals identified 3.3% of the human genome as significantly constrained and likely functional. We compared phyloP scores to genome annotation, association studies, copy-number variation, clinical genetics findings, and cancer data. Constrained positions are enriched for variants that explain common disease heritability more than other functional annotations. Our results improve variant annotation but also highlight that the regulatory landscape of the human genome still needs to be further explored and linked to disease.
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