Article

In vivo and in vitro human gene essentiality estimations capture contrasting functional constraints

2019-10-22

Abstract excerpt

Gene essentiality estimation is a popular empirical approach to link genotypes to phenotypes. In humans, essentiality is estimated based on loss-of-function (LoF) mutation intolerance, either from population exome sequencing (in vivo) data or CRISPR-based in vitro perturbation experiments. Both approaches identify genes presumed to have strong detrimental consequences on the organism upon mutation. Are these genes...

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Literature Corpus work: 25ae5f3e-39cf-53c7-9371-7c7c09d73334
DOI: 10.1101/814855

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