Fig. 1.

Schematic overview of the study outline. (A) Summary of NGS-based methods applied in this study and their potential applications to heritable skin diseases. The potential applications of RNA-seq data include HM, variant prioritization, variant detection, pathogenicity confirmation and expression profiling. As indicated, RNA-seq is complementary to exome sequencing in some of these functions, whereas some information is available only from RNA-seq. (B) Summary of the techniques applied to families with heritable skin disorders. Forty families with rare cutaneous disorders were analyzed by the combined analysis pipelines for variant calling by using genomic and transcriptomic data. (C) The overlap of methodologies utilized is illustrated by the Venn diagram. The genetic diagnostic yield by these techniques is indicated both in (B) and (C).