Computational prediction of human deep intronic variation
Pedro Barbosa, Rosina Savisaar, Maria Carmo‐Fonseca, Alcides Fonseca
This study evaluates computational tools for predicting the functional impact of deep intronic variants, finding significant differences in performance and highlighting the trade-off between interpretability and predictive power.
GigaScience · Dec 28, 2022Peer-reviewedBioinformatics