Natural human knockouts and the era of genotype to phenotype

被引：22

作者：

Alkuraya, Fowzan S. ^{[1
,2
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[2] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia

来源：

GENOME MEDICINE | 2015年 / 7卷

关键词：

OF-FUNCTION MUTATIONS;

D O I：

10.1186/s13073-015-0173-z

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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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