Article

The spectrum of gene intolerance to variation: Insights from a rare disease cohort

2025-01-29

Abstract excerpt

Deciphering the spectrum of intolerance to loss-of-function (LoF) variation helps identify genes that are critical at various stages of development and hierarchical levels of organisation. We have previously combined cell and mouse viability screens for single-gene knockouts, to summarise this spectrum into discrete categories, Full Spectrum of Intolerance to Loss-of-function (FUSIL), from genes essential for cell...

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Literature Corpus work: 36e0d9fe-39b3-578e-a818-e709bbd13d9d
DOI: 10.1101/2025.01.28.25321201

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