| 1. |
- Walsh, Roddy, et al.
(författare)
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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
- 2021
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Ingår i: Genetics in Medicine. - : Nature Publishing Group. - 1098-3600 .- 1530-0366. ; 23:1, s. 47-58
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate.Methods: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes-rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants.Results: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 x 10(-18)) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 x 10(-13)). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency.Conclusion: Large case-control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.
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| 2. |
- Emberson, Lisa D., et al.
(författare)
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Ozone effects on crops and consideration in crop models
- 2018
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Ingår i: European Journal of Agronomy. - : Elsevier BV. - 1161-0301. ; 100:Special Issue: SI, s. 19-34
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Tidskriftsartikel (refereegranskat)abstract
- © 2018 The Authors We review current knowledge of the processes by which ozone will cause injury and damage to crop plants. We do this both through an understanding of the limitations to ozone uptake (i.e. ozone being transferred from some height in the atmosphere to the leaf boundary layer and subsequent uptake via the stomata) as well as through the internal plant processes that will result in the absorbed ozone dose causing damage and/or injury. We consider these processes across a range of scales by which ozone impacts plants, from cellular metabolism influencing leaf level physiology up to whole canopy and root system processes and feedbacks. We explore how these impacts affect leaf level photosynthesis and senescence (and associated carbon assimilation) as well as whole canopy resource acquisition (e.g. water and nutrients) and ultimately crop growth and yield. We consider these processes from the viewpoint of developing crop growth models capable of incorporating key ozone impact processes within modelling structures that assess crop growth under a variety of different abiotic stresses. These models would provide a dynamic assessment of the impact of ozone within the context of other key variables considered important in determining crop growth and yield. We consider the ability to achieve such modelling through an assessment of the different types of crop model currently available (e.g. empirical, radiation use efficiency, and photosynthesis based crop growth models). Finally, we show how international activities such as the AgMIP (Agricultural Modelling and Improvement Intercomparison Project) could see crop growth modellers collaborate to assess the capabilities of different crop models to simulate the effects of ozone and other stresses. The development of robust crop growth models capable of including ozone effects would substantially improve future national, regional and global risk assessments that aim to assess the role that ozone might play under future climatic conditions in limiting food supply.
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| 3. |
- Limpens, J., et al.
(författare)
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Climatic modifiers of the response to nitrogen deposition in peat-forming Sphagnum mosses : a meta-analysis
- 2011
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Ingår i: New Phytologist. - : Wiley. - 0028-646X .- 1469-8137. ; 191:2, s. 496-507
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Tidskriftsartikel (refereegranskat)abstract
- Peatlands in the northern hemisphere have accumulated more atmospheric carbon (C) during the Holocene than any other terrestrial ecosystem, making peatlands long-term C sinks of global importance. Projected increases in nitrogen (N) deposition and temperature make future accumulation rates uncertain. Here, we assessed the impact of N deposition on peatland C sequestration potential by investigating the effects of experimental N addition on Sphagnum moss. We employed meta-regressions to the results of 107 field experiments, accounting for sampling dependence in the data. We found that high N loading (comprising N application rate, experiment duration, background N deposition) depressed Sphagnum production relative to untreated controls. The interactive effects of presence of competitive vascular plants and high tissue N concentrations indicated intensified biotic interactions and altered nutrient stochiometry as mechanisms underlying the detrimental N effects. Importantly, a higher summer temperature (mean for July) and increased annual precipitation intensified the negative effects of N. The temperature effect was comparable to an experimental application of almost 4 g N m(-2) yr(-1) for each 1 degrees C increase. Our results indicate that current rates of N deposition in a warmer environment will strongly inhibit C sequestration by Sphagnum-dominated vegetation.
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| 4. |
- Potapov, Anton M., et al.
(författare)
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Globally invariant metabolism but density-diversity mismatch in springtails
- 2023
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Soil life supports the functioning and biodiversity of terrestrial ecosystems. Springtails (Collembola) are among the most abundant soil arthropods regulating soil fertility and flow of energy through above- and belowground food webs. However, the global distribution of springtail diversity and density, and how these relate to energy fluxes remains unknown. Here, using a global dataset representing 2470 sites, we estimate the total soil springtail biomass at 27.5 megatons carbon, which is threefold higher than wild terrestrial vertebrates, and record peak densities up to 2 million individuals per square meter in the tundra. Despite a 20-fold biomass difference between the tundra and the tropics, springtail energy use (community metabolism) remains similar across the latitudinal gradient, owing to the changes in temperature with latitude. Neither springtail density nor community metabolism is predicted by local species richness, which is high in the tropics, but comparably high in some temperate forests and even tundra. Changes in springtail activity may emerge from latitudinal gradients in temperature, predation and resource limitation in soil communities. Contrasting relationships of biomass, diversity and activity of springtail communities with temperature suggest that climate warming will alter fundamental soil biodiversity metrics in different directions, potentially restructuring terrestrial food webs and affecting soil functioning.
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| 5. |
- Toreti, A, et al.
(författare)
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Narrowing uncertainties in the effects of elevated CO2 on crops
- 2020
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Ingår i: Nature Food. - : Springer Science and Business Media LLC. - 2662-1355. ; 1, s. 775-782
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Tidskriftsartikel (refereegranskat)abstract
- Plant responses to rising atmospheric carbon dioxide (CO2) concentrations, together with projected variations in temperature and precipitation will determine future agricultural production. Estimates of the impacts of climate change on agriculture provide essential information to design effective adaptation strategies, and develop sustainable food systems. Here, we review the current experimental evidence and crop models on the effects of elevated CO2 concentrations. Recent concerted efforts have narrowed the uncertainties in CO2-induced crop responses so that climate change impact simulations omitting CO2 can now be eliminated. To address remaining knowledge gaps and uncertainties in estimating the effects of elevated CO2 and climate change on crops, future research should expand experiments on more crop species under a wider range of growing conditions, improve the representation of responses to climate extremes in crop models, and simulate additional crop physiological processes related to nutritional quality.
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