Article
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.
Proceedings of the National Academy of Sciences of the United States of America - 16 Jun 2020
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
Abstract excerpt
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 exceeds 1% in at least one human population from five major ancestry groups. No such genes were identified on the X and Y...
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