Associated Papers
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
Oh RY et al.
Hgg Advances, 2024
38659227 (PubMed )
Supplement: mmc2.xlsx › FS_RNAseq_and_No_FS_SpliceAIExp
Select a paper to view details