Article

Identifying non-coding variant effects at scale via machine learning models of cis-regulatory reporter assays

2025-04-18

Abstract excerpt

The inability to interpret the functional impact of non-coding variants has been a major impediment in the promise of precision medicine. While high-throughput experimental approaches such as Massively Parallel Reporter Assays (MPRAs) have made major progress in identifying causal variants and their underlying molecular mechanisms, these tools cannot exhaustively measure variant effects genome-wide. Here we presen...

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Literature Corpus work: 78e43a0a-6884-5e0a-bbf9-1a3c755326db
DOI: 10.1101/2025.04.16.648420

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