BioinformaticsbioRxivPreprint
Functional clustering of splice-altering variants in whole genome sequencing data reveals hidden heritability in rare variant disorder
Yan Wang, Charlotte van Dijk, Ilia Sarah Timpanaro…·Kevin Patrick Kenna
SpliPath identifies pathogenic splice-altering variants in ALS by integrating SpliceAI predictions with transcriptomics data, revealing hidden heritability in rare variant disorders.