Dataset Information
Sanger Institute
Ontology highlight
ABSTRACT:
PROVIDER: EGAO00000000136 | EGA |
REPOSITORIES: EGA
Publications
Homozygous loss-of-function variants in European cosmopolitan and isolate populations.
Human molecular genetics 20150714 19
Homozygous loss of function (HLOF) variants provide a valuable window on gene function in humans, as well as an inventory of the human genes that are not essential for survival and reproduction. All humans carry at least a few HLOF variants, but the exact number of inactivated genes that can be tolerated is currently unknown—as are the phenotypic effects of losing function for most human genes. Here, we make use of 1432 whole exome sequences from five European populations to expand the catalogue ...[more]
