Targeted sequencing of vascular malformations tissues and paired blood samples

In recent years, it has been clarified that various vascular malformations are caused by gene mutations. However, there remain vascular malformations of unknown etiology. In the present study, we investigated somatic mutations of three types of vascular malformations to identify novel gene mutations involved in their pathogenesis.

• Type: Tumor vs. Matched-Normal
• Archiver: Japanese Genotype-phenotype Archive (JGA)