Abstract
Disorganized morphogenesis of blood vessels results in vascular malformations, a heterogeneous group of disorders traditionally classified into slow-flow lesions (capillary, venous, and lymphatic malformations) and high-flow lesions (arteriovenous malformations). Most vascular malformations are caused by tissue-restricted somatic mutations requiring specialized diagnostic approaches. We developed a high-sensitivity next-generation sequencing assay ('VANSeq') with high coverage (>1,000x read depth) across 44 genes.
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