Single cell sequencing as a general variant interpretation assay
Hongxia Xu, Ling Chen, Mohan Sun, Ken Jean-Baptiste, Dan Cao, Xingyan Zhou, Sandy Wong, Carmen Xiao, Tong Liu, Victor J. Quijano, Nadav Brandes, Joe Germino, Vasilis Ntranos, Chun Ye, François Aguet, Kyle Kai‐How Farh
The paper uses single cell RNA sequencing to assess the effects of protein-altering variants in three genes, showing that single cell expression signatures are more effective than bulk assays and computational models for predicting pathogenicity.
bioRxiv · Dec 12, 2023 · PreprintGenomics