Fig. 7.

RNA-seq captures a broad spectrum of mechanisms of action of pathogenic variants. Summary of variants and their effect on transcript across 33 cases from our cohort, where the capture of a transcript event by RNA-seq enabled establishing a genetic diagnosis in 32 and rejecting a candidate gene in one case, highlighting the value of transcriptomics as a tool in diagnostics. Each gene represents one case, except for NFU1, which belongs to two categories. Highlighted in orange are the nine cases where the intronic variant was missed by WES but called by RNA-seq. Both large deletions were missed by WES and RNA-seq, therefore requiring WGS to be identified. PTV: protein-truncating variant. MNV: multi-nucleotide variant