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

Humans homozygous or hemizygous for variants predicted to cause a loss of function (LoF) of the corresponding protein do not necessarily present with overt clinical phenotypes. We report here 190 autosomal genes with 207 predicted LoF variants, for which the frequency of homozygous individuals excee...

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Publié dans:Proc Natl Acad Sci U S A
Auteurs principaux: Rausell, Antonio, Luo, Yufei, Lopez, Marie, Seeleuthner, Yoann, Rapaport, Franck, Favier, Antoine, Stenson, Peter D., Cooper, David N., Patin, Etienne, Casanova, Jean-Laurent, Quintana-Murci, Lluis, Abel, Laurent
Format: Artigo
Langue:Inglês
Publié: National Academy of Sciences 2020
Sujets:
Biological Sciences
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7306792/
https://ncbi.nlm.nih.gov/pubmed/32487729
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1917993117
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