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Träfflista för sökning "WFRF:(Nielsen Kasper Rene) "

Search: WFRF:(Nielsen Kasper Rene)

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1.
  • Oddsson, Asmundur, et al. (author)
  • Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
  • 2023
  • In: Nature Communications. - : Springer Nature. - 2041-1723. ; 14:1
  • Journal article (peer-reviewed)abstract
    • Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit of homozygosity among 1.52 million individuals from six European populations. In this study, we identified 25 genes harboring protein-altering sequence variants with a strong deficit of homozygosity (10% or less of predicted homozygotes). Sequence variants in 12 of the genes cause Mendelian disease under a recessive mode of inheritance, two under a dominant mode, but variants in the remaining 11 have not been reported to cause disease. Sequence variants with a strong deficit of homozygosity are over-represented among genes essential for growth of human cell lines and genes orthologous to mouse genes known to affect viability. The function of these genes gives insight into the genetics of intrauterine lethality. We also identified 1077 genes with homozygous predicted loss-of-function genotypes not previously described, bringing the total set of genes completely knocked out in humans to 4785.
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2.
  • Popovski, Petar, et al. (author)
  • Wireless Access for Ultra-Reliable Low-Latency Communication (URLLC): Principles and Building Blocks
  • 2018
  • In: IEEE Network. - 1558-156X .- 0890-8044. ; 32:2, s. 16-23
  • Journal article (peer-reviewed)abstract
    • Ultra-reliable low latency communication (URLLC) is an important new feature brought by 5G, with a potential to support a vast set of applications that rely on mission-critical links. In this article, we first discuss the principles for supporting URLLC from the perspective of the traditional assumptions and models applied in communication/information theory. We then discuss how these principles are applied in various elements of the system design, such as use of various diversity sources, design of packets and access protocols. The important messages are that there is a need to optimize the transmission of signaling information, as well as a need for a lean use of various sources of diversity.
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journal article (2)
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peer-reviewed (2)
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Thorsteinsdottir, Un ... (2)
Andreassen, Ole A (1)
Olsson, Tomas (1)
Klareskog, Lars (1)
Ström, Erik, 1965 (1)
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Haavik, Jan (1)
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Westergaard, David (1)
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Frei, Oleksandr (1)
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Stridh, Pernilla (1)
Sveinbjornsson, Garð ... (1)
Gudbjartsson, Daníel ... (1)
Jacobsen, Rikke Loui ... (1)
Nielsen, Kaspar Rene (1)
Saevarsdottir, Saedi ... (1)
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