Review
Open access
Aug 2026
Evidence-based recommendations for application of construct-based splicing data in clinical variant classification
Clinical calibration of minigene results showed that high (≥ 80%) or low (≤ 20%) expression of variant-induced loss of function (LOF) transcripts provide strong evidence towards or against pathogenicity, respectively.
D. Canson, G. Wiggins, Eladio A. Velasco-Sampedro et al.
· Genome Medicine · 0 citations