ArticleInternational journal of molecular sciences2024
Genomic Insights into Idiopathic Granulomatous Mastitis through Whole-Exome Sequencing: A Case Report of Eight Patients.
Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Pittsburgh Classification and Treatment Algorithm for Idiopathic Granulomatous Mastitis: A Multicenter Cohort Study.European journal of breast health · 2026Article
- Idiopathic granulomatous mastitis: A narrative review based on the Turkish consensus classification.Turkish journal of surgery · 2026Article
- Comparative Evaluation of Mutect2, Strelka2, and FreeBayes for Somatic SNV Detection in Synthetic and Clinical Whole-Exome Sequencing Data.Biomolecules · 2025Article
- The genetic landscape of primary malignant melanoma of the cervix using integrated bioinformatics analysis and whole-exome sequencing.Frontiers in oncology · 2025Article
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Authors and funding
12 authors.
Funding
Abstract
Idiopathic granulomatous mastitis (IGM) is a rare condition characterised by chronic inflammation and granuloma formation in the breast. The aetiology of IGM is unclear. By focusing on the protein-coding regions of the genome, where most disease-related mutations often occur, whole-exome sequencing (WES) is a powerful approach for investigating rare and complex conditions, like IGM. We report WES results on paired blood and tissue samples from eight IGM patients. Samples were processed using standard genomic protocols. Somatic variants were called with two analytical pipelines: nf-core/sarek with
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