Fig. 1: Schematics of identification intron retention associated variants.

a Examples of transcriptome sequencing alignment around variant causing intron retention, as well as common patterns of false positives. b Overview of the proposed framework for detecting intron retention associated variants from raw sequencing data registered in Sequencing Read Archive. Downloaded sequence data is processed in on-premise or public cloud computing environment and identified IRAVs are transferred to the IRAV database and provided to the community.