{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Cavalcanti Brandao LA"],"funding":["Conselho Nacional de Desenvolvimento Científico e Tecnológico","Ministry of Health","EraPerMed"],"pagination":["e0326458"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12180620"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["20(6)"],"pubmed_abstract":["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 muta"],"journal":["PloS one"],"pubmed_title":["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."],"pmcid":["PMC12180620"],"funding_grant_id":["CNPq/MCTI Nº 10/2023","EraPerMed2018-137","RC16/18"],"pubmed_authors":["d'Adamo AP","Rodrigo Assuncao B","Ratzinger G","Marzano AV","Del Vecchio C","Cavalcanti Brandao LA","Suleman M","Rodrigues de Moura R","Jaschke W","Schmuth M","Tricarico PM","Crovella S","Bockle B","Moltrasio C","Frischhut N"],"additional_accession":[]},"is_claimable":false,"name":"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.","description":"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 muta","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025","modification":"2026-06-02T22:41:09.033Z","creation":"2026-04-21T03:14:43.19Z"},"accession":"S-EPMC12180620","cross_references":{"pubmed":["40540520"],"doi":["10.1371/journal.pone.0326458"]}}