Genetic & Genomic MedicineCell GenomicsPeer-reviewed
Joint estimation and imputation of variant functional effects using high throughput assay data
Yu Tian, James D. Fife, Vineel Bhat…·Christopher A. Cassa
The paper develops FUSE, a framework that jointly estimates and imputes variant functional effects using deep mutational scanning data, improving variant impact predictions and clinical discrimination.
8 citations