Analysis of Aberrant Splicing Events and Gene Expression Outliers in Primary Ciliary Dyskinesia.

The article discusses how RNA sequencing (RNA-seq) can help detect abnormal splicing events and gene expression in primary ciliary dyskinesia (PCD). It describes a study conducted on 36 Japanese patients with suspected PCD, where genomic DNA analysis and targeted resequencing were initially performed to identify causative variants. It also highlights the importance of RNA-seq in complementing DNA sequencing for the identification and interpretation of variants of uncertain significance in PCD.