Δευτέρα 30 Οκτωβρίου 2017

Human gene essentiality

Human gene essentiality

Nature Reviews Genetics, Published online: 30 October 2017; doi:10.1038/nrg.2017.75

Characterizing the essentiality of human genes provides insights into gene function and genome evolution and facilitates the clinical interpretation of genetic variants. This article analyses essentiality metrics based on the statistical intolerance to loss-of-function mutations in human population sequencing studies and discusses commonalities and distinctions relative to data sets from knockout mice and functional genomics screens in human cell culture. Implications for disease genetics and extrapolation to non-coding regions are also discussed.



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