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  • 2021
  • swepub:Mat__t
  • 2021
  • swepub:Mat__t
  • Glasbey, JC, et al. (författare)
  • 2021
  • swepub:Mat__t
  • Bravo, L, et al. (författare)
  • 2021
  • swepub:Mat__t
  • Tabiri, S, et al. (författare)
  • 2021
  • swepub:Mat__t
  • Niemi, MEK, et al. (författare)
  • 2021
  • swepub:Mat__t
  • Niemi, M. E. K., et al. (författare)
  • Mapping the human genetic architecture of COVID-19
  • 2021
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 600:7889, s. 472-
  • Tidskriftsartikel (refereegranskat)abstract
    • The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-19(1,2), host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases(3-7). They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease.
  • Ramdas, S., et al. (författare)
  • A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
  • 2022
  • Ingår i: American Journal of Human Genetics. - : CELL PRESS. - 0002-9297 .- 1537-6605. ; 109:8, s. 1366-1387
  • Tidskriftsartikel (refereegranskat)abstract
    • A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of functional genomic datasets to discover regulatory mechanisms underlying lipid associations. We first prioritize lipid-associated genes with expression quantitative trait locus (eQTL) colocalizations and then add chromatin interaction data to narrow the search for functional genes. Polygenic enrichment analysis across 697 annotations from a host of tissues and cell types confirms the central role of the liver in lipid levels and highlights the selective enrichment of adipose-specific chromatin marks in high-density lipoprotein cholesterol and triglycerides. Overlapping transcription factor (TF) binding sites with lipid-associated loci identifies TFs relevant in lipid biology. In addition, we present an integrative framework to prioritize causal variants at GWAS loci, producing a comprehensive list of candidate causal genes and variants with multiple layers of functional evidence. We highlight two of the prioritized genes, CREBRF and RRBP1, which show convergent evidence across functional datasets supporting their roles in lipid biology.
  • Abat, E., et al. (författare)
  • The ATLAS TRT end-cap detectors
  • 2008
  • Ingår i: Journal of Instrumentation. - : IOP Publishing. - 1748-0221. ; 3
  • Tidskriftsartikel (refereegranskat)abstract
    • The ATLAS TRT end-cap is a tracking drift chamber using 245,760 individual tubular drift tubes. It is a part of the TRT tracker which consist of the barrel and two end-caps. The TRT end-caps cover the forward and backward pseudo-rapidity region 1.0 < vertical bar eta vertical bar < 2.0, while the TRT barrel central eta region vertical bar eta vertical bar < 1.0. The TRT system provides a combination of continuous tracking with many measurements in individual drift tubes ( or straws) and of electron identification based on transition radiation from fibers or foils interleaved between the straws themselves. Along with other two sub-systems, namely the Pixel detector and Semi Conductor Tracker (SCT), the TRT constitutes the ATLAS Inner Detector. This paper describes the recently completed and installed TRT end-cap detectors, their design, assembly, integration and the acceptance tests applied during the construction.
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