GenomicsbioRxivPreprint
Saturation-seq integrates single-cell saturation genome editing and RNA-seq to quantify NFE2L2 (NRF2) variant effects
Magdalena E Strauß, Andrew J. Waters, Holly Roberston…·D. Adams
Saturation-seq combines genome editing and single-cell RNA-seq to quantify variant effects on NFE2L2, accurately distinguishing pathogenic from benign variants.