biostudies-literatureCavalcanti Brandao LAConselho Nacional de Desenvolvimento Científico e TecnológicoMinistry of HealthEraPerMede0326458https://www.ebi.ac.uk/biostudies/studies/S-EPMC12180620biostudies-literatureUnknown20(6)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 biopsy samples from six HS patients. This approach enabled a comprehensive multiomics investigation, identifying disease-associated genetic variants and transcriptomic alterations. A key innovation of InterOmics is the Multiomics Variant Category, which classifies variants based on DNA and RNA data, capturing regulatory mechanisms such as allele-specific expression, RNA editing, nonsense-mediated decay, and gain-of-function mutations. Our findings highlight HLA gene variants and keratin-related mutaPloS oneGenomic 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.PMC12180620CNPq/MCTI Nº 10/2023EraPerMed2018-137RC16/18d'Adamo APRodrigo Assuncao BRatzinger GMarzano AVDel Vecchio CCavalcanti Brandao LASuleman MRodrigues de Moura RJaschke WSchmuth MTricarico PMCrovella SBockle BMoltrasio CFrischhut NfalseGenomic 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 biopsy samples from six HS patients. This approach enabled a comprehensive multiomics investigation, identifying disease-associated genetic variants and transcriptomic alterations. A key innovation of InterOmics is the Multiomics Variant Category, which classifies variants based on DNA and RNA data, capturing regulatory mechanisms such as allele-specific expression, RNA editing, nonsense-mediated decay, and gain-of-function mutations. Our findings highlight HLA gene variants and keratin-related muta2025-01-01T00:00:00Z20252026-06-02T22:41:09.033Z2026-04-21T03:14:43.19ZS-EPMC121806204054052010.1371/journal.pone.0326458