Genomic profiling in hidradenitis suppurativa: InterOmics pipeline for DNA-RNA sequencing highlights HLA variants, keratin-associated mutations and extracellular matrix alterations as contributing factors to HS pathogenesis.

Genomic profiling in hidradenitis suppurativa: InterOmics pipeline for DNA-RNA sequencing highlights HLA variants, keratin-associated mutations and extracellular matrix alterations as contributing factors to HS pathogenesis.

Hidradenitis suppurativa (HS) is a chronic autoinflammatory skin disorder with a complex genetic and molecular basis. To advance its characterization, we applied InterOmics, a novel bioinformatics pipeline integrating whole exome sequencing (WES) and RNA sequencing (RNA-seq), to saliva and skin biop...

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Main Authors: Lucas André Cavalcanti Brandão, Ronald Rodrigues de Moura, Bruno Rodrigo Assunção, Cecilia Del Vecchio, Adamo Pio d'Adamo, Gudrun Ratzinger, Barbara Böckle, Nina Frischhut, Wolfram Jaschke, Matthias Schmuth, Muhammad Suleman, Angelo Valerio Marzano, Chiara Moltrasio, Paola Maura Tricarico, Sergio Crovella
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2025-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0326458
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