Scalable saturation mutagenesis reveals gene regulatory architecture and rare variant effects
Long-context sequence-to-function models enable nucleotide-resolution prediction of regulatory variant effects, motivating comprehensive mutational interrogation across broad genomic contexts. Yet conventional in silico saturation mutagenesis (ISM) scores mutations one at a time, requiring millions of model evaluations for a single gene and billions to trillions at genome scales. Here, we…
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