Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

Autor: Lluis Quintana-Murci, Antoine Favier, Franck Rapaport, David Neil Cooper, Peter D. Stenson, Etienne Patin, Laurent Abel, Jean-Laurent Casanova, Yufei Luo, Marie Lopez, Antonio Rausell, Yoann Seeleuthner

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2020, 117 (24), pp.13626-13636. ⟨10.1073/pnas.1917993117⟩
Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13626-13636. ⟨10.1073/pnas.1917993117⟩

Humans homozygous or hemizygous for variants predicted to cause a loss of function of the corresponding protein do not necessarily present with overt clinical phenotypes. However, the set of effectively dispensable genes in the human genome has not y

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https://hal.archives-ouvertes.fr/hal-03020429