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

Martin-Geary A., Lecoquierre F., Walker S., Whiffin N., Dawes R.

DOI

10.1101/2025.08.27.25334471

Type

Preprint

Publication Date

2025-01-01T00:00:00+00:00

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