Dissecting rare variants causing Harlequin-type Ichthyosis via whole-exome sequencing

Harlequin Ichithyosis (HI) is now recognized as a rare skin disease that has a wide range of complications and required multidisciplinary and high-throughput approach. Therefore, in-house pipeline of next-generation run and analysis is required to identify and select rare variants that might directly affect gene-protein function in patients with HI. Addition of data from our experiments may provide insights for causal rare variants in the dataset of HI.