Article name: Variant Enrichment Analysis to Explore Pathways Functionality in complex autoinflammatory skin disorders through Whole Exome Sequencing analysis

Lucas André Cavalcanti Brandão^1,#, Ronald Rodrigues de Moura^1,*,#, Angelo Valerio Marzano^2,3, Chiara Moltrasio^1,2, Paola Maura Tricarico¹, Sergio Crovella⁴.
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We developed the Variant Enrichment Analysis (VEA) workflow to exploit pathway impairment from patients using Genetic Exome Sequencing data. VEA is a statistical method able to find differences between the numbers of genetic variants in a given pathway in comparison with a reference dataset.