GeneticsbioRxivPreprint
Single-cell profiling resolves gain- and loss-of-function mechanisms in CASR to advance mechanism-aware variant classification
Samskruthi Reddy Padigepati, David Stafford, Yuya Kobayashi…·Alix M.B. Lacoste
The paper uses single-cell RNA-seq and machine learning to classify CASR variants as gain- or loss-of-function, achieving high accuracy and clinical validation.