Ontology highlight
ABSTRACT:
SUBMITTER: MacArthur DG
PROVIDER: S-EPMC3299548 | biostudies-literature | 2012 Feb
REPOSITORIES: biostudies-literature
Science (New York, N.Y.) 20120201 6070
Genome-sequencing studies indicate that all humans carry many genetic variants predicted to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy in the human genome. Here we apply stringent filters to 2951 putative LoF variants obtained from 185 human genomes to determine their true prevalence and properties. We estimate that human genomes typically contain ~100 genuine LoF variants with ~20 genes completely inactivated. We identify rare and likely deleterious L ...[more]