Single-cell profiling resolves gain- and loss-of-function mechanisms in CASR to advance mechanism-aware variant classification
Multiplexed assays of variant effect (MAVEs) and computational methods have advanced variant classification but have struggled to distinguish the molecular mechanism of variants with sufficient accuracy, limiting utility for multi-mechanism genes. Here, we coupled single-cell RNA-seq profiling with supervised machine learning to predict the mechanism of variants in CASR, a gene in which gain of…
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