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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Public Library of Science (PLoS)
2025-01-01
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| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0326458 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Lucas André Cavalcanti Brandão |
| collection | DOAJ |
| 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 mutations as potential contributors to HS pathogenesis. By bridging genomic and transcriptomic data, InterOmics enhances variant interpretation. This study underscores the power of multiomics-driven approaches in deciphering complex diseases, paving the way for precision medicine in HS. |
| format | Article |
| id | doaj-art-5f10f2a1ea904f0887a640b6a18a4b71 |
| institution | Kabale University |
| issn | 1932-6203 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-5f10f2a1ea904f0887a640b6a18a4b712025-08-20T03:24:10ZengPublic Library of Science (PLoS)PLoS ONE1932-62032025-01-01206e032645810.1371/journal.pone.0326458Genomic 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.Lucas André Cavalcanti BrandãoRonald Rodrigues de MouraBruno Rodrigo AssunçãoCecilia Del VecchioAdamo Pio d'AdamoGudrun RatzingerBarbara BöckleNina FrischhutWolfram JaschkeMatthias SchmuthMuhammad SulemanAngelo Valerio MarzanoChiara MoltrasioPaola Maura TricaricoSergio CrovellaHidradenitis 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 mutations as potential contributors to HS pathogenesis. By bridging genomic and transcriptomic data, InterOmics enhances variant interpretation. This study underscores the power of multiomics-driven approaches in deciphering complex diseases, paving the way for precision medicine in HS.https://doi.org/10.1371/journal.pone.0326458 |
| spellingShingle | 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 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. PLoS ONE |
| 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. |
| title_full | 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. |
| title_fullStr | 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. |
| title_full_unstemmed | 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. |
| title_short | 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. |
| title_sort | 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 |
| url | https://doi.org/10.1371/journal.pone.0326458 |
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