Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

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.publishedVersio

Offervilje. Om ret og rimelighed blandt venner og fjender og om at komme og dømme levende og døde i Max Kestners film "I am Fiction"

Louise Brix Jacobsen, Rikke Andersen Kraglund & Henrik Skov Nielsen: “Selfsacrifice. On Right and Reasonableness among Foes and Friends, and on Judging the Living and the Dead in Max Kestner’s film I am Fiction”In 2011, the performance artist Thomas Skade-Rasmussen Strøbech lost a lawsuit against his former friend and collaborator Helge Bille Nielsen and the publishing house of Gyldendal. This led to a debate about copyright, freedom of expression, identity, and the line between fiction and reality. In 2008, Nielsen or Das Beckwerk published the novel The Sovereign where Strøbech – seemingly without his knowledge and apparently against his will – is the main character. About a year after losing the lawsuit Strøbech and film director Max Kestner gives his version of the events before, during, and after the trial in the film I am Fiction (Identitetstyveriet). This article analyzes I am fiction in order to show how the film on the one hand outlines Strøbech’s version of the events as a story about a victim but on the other hand undermines this version with humor and irony and points towards an artistic collaboration between alleged victim and villain