Saturation variant interpretation using CRISPR prime editing
Steven Erwood, Teija M.I. Bily, Jason Lequyer, Joyce Yan, Nitya Gulati, Reid A. Brewer, Liangchi Zhou, Laurence Pelletier, Evgueni A. Ivakine, Ronald D. Cohn
The paper uses CRISPR prime editing to functionally interpret variants in NPC1 and BRCA2 genes by haploidizing cell lines and scoring 256 and 465 variants respectively.
Nature Biotechnology · Feb 21, 2022Peer-reviewedGenetics