Genetic and epigenetic analysis of individuals with porokeratosis

We performed genome sequencing���including whole-exome sequencing (WES), whole-genome sequencing (WGS), long-read WGS, and amplicon-seq���along with SNP array, methylation array, and RNA-seq on samples of epidermis (both lesion and non-lesion), peripheral blood, and/or cultured keratinocytes from individuals with porokeratosis.

• Type: Amplicon Sequencing
• Archiver: Japanese Genotype-phenotype Archive (JGA)