LDLR variant classification through activity-normalized prime editing screening
Phillip J. Zhou, Minja Velimirovic, Yu Tian, Vojislav Gligorovski, Nicolas Mathis, Jing Zhao, Quang Vinh Phan, Felicitas Vogd, Jayoung Ryu, Qisheng Pan, Atharva Tyagi, David Benjamin Ascher, Gerald Schwank, Luca Pinello, Christopher A. Cassa, Richard I. Sherwood
This paper uses prime editing to classify LDLR variants by measuring their impact on LDL-C uptake, reclassifying many previously unclassified variants.
Circulation · Sep 1, 2026Peer-reviewedGenetics