Article

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

2022-06-14

Abstract excerpt

Loss-of-function of DDX3X is a leading cause of neurodevelopmental disorders (NDD) in females. DDX3X is also a somatically mutated cancer driver gene proposed to have tumour promoting and suppressing effects. We performed saturation genome editing of DDX3X, testing in vitro the functional impact of 12,776 nucleotide variants. We identified 3,432 functionally abnormal variants, in three distinct classes. We trained...

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Literature Corpus work: 3ff1963c-652b-540d-a5e5-02a608c4ee96
DOI: 10.1101/2022.06.10.22276179

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