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Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?
Vagheesh M Narasimhan1, Yali Xue1, Chris Tyler-Smith1
1Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Trends in Molecular Medicine
|March 19, 2016
Summary
Everyone carries gene variants that inactivate genes (knockouts). Studying homozygous loss-of-function carriers offers insights into human gene function and clinical interpretations.
Area of Science:
- Genomics
- Human Genetics
- Population Genetics
Background:
- Large-scale genomic and exomic data reveal widespread gene-inactivating variants (knockouts) in human populations.
- The presence of numerous knockouts raises questions about their phenotypic consequences and the potential to study human gene function.
Purpose of the Study:
- To discuss strategies, recent findings, and future directions for large-scale human knockout studies.
- To explore the relevance of these studies for understanding gene function, population genetics, and clinical interpretation.
Main Methods:
- Analysis of whole-genome and whole-exome sequence data.
- Investigation of homozygous loss-of-function carriers to infer gene function.
- Review of current research and prospective approaches in human knockout studies.
Main Results:
- Individuals commonly carry multiple gene knockouts.
- Homozygous loss-of-function carriers provide a unique model for studying human gene function.
- These studies have implications for understanding genetic variation and its impact on health.
Conclusions:
- Large-scale human knockout studies are crucial for advancing our understanding of gene function.
- Investigating knockouts aids in population genetics and improves the accuracy of clinical genetic interpretations.
- Future research should focus on leveraging knockout data for biological and clinical insights.
