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Author

John F. Pearson

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Review Open access Aug 2026

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

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 sp...

D. Canson, G. Wiggins, Eladio A. Velasco-Sampedro et al. · 0 citations

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