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. 2015 May 29;7(1):48.
doi: 10.1186/s13073-015-0173-z. eCollection 2015.

Natural human knockouts and the era of genotype to phenotype

Fowzan S Alkuraya  1
Affiliations

Natural human knockouts and the era of genotype to phenotype

Fowzan S Alkuraya. Genome Med. .

Abstract

Complete loss of gene function in humans by naturally occurring biallelic loss-of-function mutations (human knockout) is not a new concept. However, the recent identification of human knockouts along the entire spectrum of health and disease by next-generation sequencing promises to unlock their full potential to accelerate the medical and functional annotation of the human genome.

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