Article

Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue

2023-07-12

Abstract excerpt

<title>Abstract</title> <p>A recent report described a nonsense variant simultaneously creating a donor splice site, resulting in a truncated but functional protein. To explore the generalizability of this unique mechanism, we analyzed > 115,000 nonsense variants from different databases using SpliceAI annotations. Between 0.61% (donor gain delta score > 0.8, for high precision) and 2.57% (> 0.2, for high sensiti...

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Literature Corpus work: 12336c34-c267-5314-8804-b594c23329f2
DOI: 10.21203/rs.3.rs-3054906/v1

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