Article

Evidence-based recommendations for application of construct-based splicing data in clinical variant classification

2026-04-14

Abstract excerpt

<title>Abstract</title> <p>Background: Minigene RT-PCR assays are widely used to assess variant impact on splicing, with increasing reports of massively parallel splicing assays (MPSAs) demonstrating potential to upscale diagnostic use of construct-based data. This study conducted a comprehensive evaluation of > 41,000 variants from construct-based splicing assays, to build evidence-based recommendations to supp...

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Literature Corpus work: 51c5656d-46c4-587f-b6c9-58aaf8ef2936
DOI: 10.21203/rs.3.rs-9081705/v1

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