Genome-sequencing studies indicate that all humans carry multiple genetic variants predicted to cause loss of function (LoF) of protein-coding genes. McArthur et al. estimated that human genomes contain ~100 genuine LoF variants with ~20 genes completely inactivated. They also described a method for using the differences found between LoF-tolerant and recessive disease genes to prioritize candidate genes found in clinical sequencing studies. This study suggests that the human genome is more redundant than previously thought.

A systematic survey of loss-of-function variants in human protein-coding genes. MacArthur et al. Science. 2012 Feb 17;335(6070):823-8.  PMID: 22344438

posted by Yannis Trakadis MD