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Sökning: WFRF:(Marten A) > (2020-2022) > (2021)

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2.
  • Graham, Sarah E, et al. (författare)
  • The power of genetic diversity in genome-wide association studies of lipids.
  • 2021
  • Ingår i: Nature. - : Nature Publishing Group. - 1476-4687 .- 0028-0836. ; 600:7890, s. 675-679
  • Tidskriftsartikel (refereegranskat)abstract
    • Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied prevalence worldwide owing to different dietary patterns and medication use1. Despite advances in prevention and treatment, in particular through reducing low-density lipoprotein cholesterol levels2, heart disease remains the leading cause of death worldwide3. Genome-wideassociation studies (GWAS) of blood lipid levels have led to important biological and clinical insights, as well as new drug targets, for cardiovascular disease. However, most previous GWAS4-23 have been conducted in European ancestry populations and may have missed genetic variants that contribute to lipid-level variation in other ancestry groups. These include differences in allele frequencies, effect sizes and linkage-disequilibrium patterns24. Here we conduct a multi-ancestry, genome-wide genetic discovery meta-analysis of lipid levels in approximately 1.65 million individuals, including 350,000 of non-European ancestries. We quantify the gain in studying non-European ancestries and provide evidence to support the expansion of recruitment of additional ancestries, even with relatively small sample sizes. We find that increasing diversity rather than studying additional individuals of European ancestry results in substantial improvements in fine-mapping functional variants and portability of polygenic prediction (evaluated in approximately 295,000 individuals from 7 ancestry groupings). Modest gains in the number of discovered loci and ancestry-specific variants were also achieved. As GWAS expand emphasis beyond the identification of genes and fundamental biology towards the use of genetic variants for preventive and precision medicine25, we anticipate that increased diversity of participants will lead to more accurate and equitable26 application of polygenic scores in clinical practice.
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3.
  • Ruth, Katherine S, et al. (författare)
  • Genetic insights into biological mechanisms governing human ovarian ageing
  • 2021
  • Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; 596:7872, s. 393-397
  • Tidskriftsartikel (refereegranskat)abstract
    • Reproductive longevity is essential for fertility and influences healthy ageing in women1,2, but insights into its underlying biological mechanisms and treatments to preserve it are limited. Here we identify 290 genetic determinants of ovarian ageing, assessed using normal variation in age at natural menopause (ANM) in about 200,000 women of European ancestry. These common alleles were associated with clinical extremes of ANM; women in the top 1% of genetic susceptibility have an equivalent risk of premature ovarian insufficiency to those carrying monogenic FMR1 premutations3. The identified loci implicate a broad range of DNA damage response (DDR) processes and include loss-of-function variants in key DDR-associated genes. Integration with experimental models demonstrates that these DDR processes act across the life-course to shape the ovarian reserve and its rate of depletion. Furthermore, we demonstrate that experimental manipulation of DDR pathways highlighted by human genetics increases fertility and extends reproductive life in mice. Causal inference analyses using the identified genetic variants indicate that extending reproductive life in women improves bone health and reduces risk of type 2 diabetes, but increases the risk of hormone-sensitive cancers. These findings provide insight into the mechanisms that govern ovarian ageing, when they act, and how they might be targeted by therapeutic approaches to extend fertility and prevent disease.
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  • Roura-Pascual, Núria, et al. (författare)
  • Alternative futures for global biological invasions
  • 2021
  • Ingår i: Sustainability Science. - 1862-4065 .- 1862-4057. ; 16:5, s. 1637-1650
  • Tidskriftsartikel (refereegranskat)abstract
    • Scenario analysis has emerged as a key tool to analyze complex and uncertain future socio-ecological developments. However, currently existing global scenarios (narratives of how the world may develop) have neglected biological invasions, a major threat to biodiversity and the economy. Here, we use a novel participatory process to develop a diverse set of global biological invasion scenarios spanning a wide range of plausible global futures through to 2050. We adapted the widely used two axes scenario analysis approach to develop four families of four scenarios each, resulting in 16 scenarios that were later clustered into four contrasting sets of futures. Our analysis highlights that socioeconomic developments and technological innovation have the potential to shape biological invasions, in addition to well-known drivers, such as climate and human land use change and global trade. Our scenarios partially align with the shared socioeconomic pathways created by the climate change research community. Several factors that drive differences in biological invasions were underrepresented in the shared socioeconomic pathways; in particular, the implementation of biosecurity policies. We argue that including factors related to public environmental awareness and technological and trade development in global scenarios and models is essential to adequately consider biological invasions in global environmental assessments and thereby obtain a more integrative picture of future social-ecological developments.
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6.
  • Folke, Carl, et al. (författare)
  • Our future in the Anthropocene biosphere
  • 2021
  • Ingår i: Ambio. - 0044-7447 .- 1654-7209. ; 50:4, s. 834-869
  • Tidskriftsartikel (refereegranskat)abstract
    • The COVID-19 pandemic has exposed an interconnected and tightly coupled globalized world in rapid change. This article sets the scientific stage for understanding and responding to such change for global sustainability and resilient societies. We provide a systemic overview of the current situation where people and nature are dynamically intertwined and embedded in the biosphere, placing shocks and extreme events as part of this dynamic; humanity has become the major force in shaping the future of the Earth system as a whole; and the scale and pace of the human dimension have caused climate change, rapid loss of biodiversity, growing inequalities, and loss of resilience to deal with uncertainty and surprise. Taken together, human actions are challenging the biosphere foundation for a prosperous development of civilizations. The Anthropocene reality-of rising system-wide turbulence-calls for transformative change towards sustainable futures. Emerging technologies, social innovations, broader shifts in cultural repertoires, as well as a diverse portfolio of active stewardship of human actions in support of a resilient biosphere are highlighted as essential parts of such transformations.
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  • Uusitalo, Mikko A., et al. (författare)
  • 6G Vision, Value, Use Cases and Technologies from European 6G Flagship Project Hexa-X
  • 2021
  • Ingår i: IEEE Access. - 2169-3536. ; 9, s. 160004-160020
  • Tidskriftsartikel (refereegranskat)abstract
    • While 5G is being deployed and the economy and society begin to reap the associated benefits, the research and development community starts to focus on the next, 6th Generation (6G) of wireless communications. Although there are papers available in the literature on visions, requirements and technical enablers for 6G from various academic perspectives, there is a lack of joint industry and academic work towards 6G. In this paper a consolidated view on vision, values, use cases and key enabling technologies from leading industry stakeholders and academia is presented. The authors represent the mobile communications ecosystem with competences spanning hardware, link layer and networking aspects, as well as standardization and regulation. The second contribution of the paper is revisiting and analyzing the key concurrent initiatives on 6G. A third contribution of the paper is the identification and justification of six key 6G research challenges: (i) “connecting”, in the sense of empowering, exploiting and governing, intelligence; (ii) realizing a network of networks, i.e., leveraging on existing networks and investments, while reinventing roles and protocols where needed; (iii) delivering extreme experiences, when/where needed; (iv) (environmental, economic, social) sustainability to address the major challenges of current societies; (v) trustworthiness as an ingrained fundamental design principle; (vi) supporting cost-effective global service coverage. A fourth contribution is a comprehensive specification of a concrete first-set of industry and academia jointly defined use cases for 6G, e.g., massive twinning, cooperative robots, immersive telepresence, and others. Finally, the anticipated evolutions in the radio, network and management/orchestration domains are discussed.
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9.
  • Uusitalo, Mikko A., et al. (författare)
  • Hexa-X: The european 6G flagship project
  • 2021
  • Ingår i: 2021 Joint European Conference on Networks and Communications and 6G Summit, EuCNC/6G Summit 2021. ; , s. 580-585
  • Konferensbidrag (refereegranskat)abstract
    • Hexa-X will pave the way to the next generation of wireless networks (Hexa) by explorative research (X). The Hexa-X vision is to connect human, physical, and digital worlds with a fabric of sixth generation (6G) key enablers. The vision is driven by the ambition to contribute to objectives of growth, global sustainability, trustworthiness, and digital inclusion. Key 6G value indicators and use cases are defined against the background of technology push, society and industry pull as well as objectives of technology sovereignty. Key areas of research have been formulated accordingly to include connecting intelligence, network of networks, sustainability, global service coverage, extreme experience, and trustworthiness. Critical technology enablers for 6G are developed in the project including, sub-THz transceiver technologies, accurate stand-alone positioning and radio-based imaging, improved radio performance, artificial intelligence (AI) / machine learning (ML) inspired radio access network (RAN) technologies, future network architectures and special purpose solutions including future ultra-reliable low-latency communication (URLLC) schemes. Besides technology enablers, early trials will be carried out to help assess viability and performance aspects of the key technology enablers. The 6G Hexa-X project is integral part of European and global research effort to help define the best possible next generation of networks.
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