Browsing Centre for Clinical Pharmacology by Subject "Genes, Essential"

Now showing items 1-2 of 2

    • Essential genes: a cross-species perspective. 

      Cacheiro, P; Smedley, D (2023-09)
      Protein coding genes exhibit different degrees of intolerance to loss-of-function variation. The most intolerant genes, whose function is essential for cell or/and organism survival, inform on fundamental biological processes ...

    • Lethal phenotypes in Mendelian disorders. 

      Cacheiro, P; Lawson, S; Van den Veyver, IB; Marengo, G; Zocche, D; Murray, SA; Duyzend, M; Robinson, PN; Smedley, D (Elsevier, 2024-04-13)
      PURPOSE: Existing resources that characterize the essentiality status of genes are based on either proliferation assessment in human cell lines, viability evaluation in mouse knockouts, or constraint metrics derived from ...