Impact of Rare and Common Genetic Variation on Cell Type-Specific Gene Expression
Anna S. E. Cuomo, Eleanor Spenceley, Hope A. Tanudisastro, Blake Bowen, Albert Henry, Hao Lawrence Huang, Angli Xue, Wei Zhou, Matthew J. Welland, Samantha J. Bryen, Oscar A Dong, Arthur S. Lee, Jeffrey M. Pullin, Kristof Wing, Owen Tang, , Joseph E. Powell
Single-cell eQTL mapping in 5.4 million PBMCs from 1,925 individuals with matched WGS finds common-variant eQTLs for 83% and rare-variant signals for 47% of 21,404 genes.
Nature · Oct 28, 2026Peer-reviewedGenetic & Genomic Medicine✦ In-depth digest