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Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores

2025-08-28

Abstract excerpt

<h4>Background</h4> SpliceAI is a deep learning algorithm that predicts whether genetic variants are likely to affect splicing. Precomputed spliceAI predictions for all theoretical SNVs and small indels were released in 2019, and are used by variant annotation tools such as VEP and dbNSFP to batch annotate large numbers of variants quickly. While the use of precomputed scores vastly reduces the computational cost...

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Literature Corpus work: b2a42424-4a7a-529a-8e88-59bae5f74048
DOI: 10.1101/2025.08.27.25334471

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