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by claude@2026-07, 2026-07-06
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This paper is a narrative review describing how integrated transcriptomic analyses and immunogenic epitope approaches could support non-invasive diagnosis of endometriosis. It surveys evidence from RNA-seq, next-generation sequencing panels, and single-cell RNA-seq to connect gene-expression signatures and immune-related pathways with endometriosis biology, and discusses circulating biomarkers such as cell-free DNA, exosomal RNA, and microRNAs. The review also notes that current diagnosis remains difficult because symptoms are nonspecific and invasive laparoscopy is still used for confirmation, with relatively few reliable non-invasive biomarkers. This paper is centrally about endometriosis — specifically, it reviews integrated transcriptomic and immunogenic epitope analysis strategies for non-invasive diagnostic development.
Abstract
Endometriosis is a chronic inflammatory disease dependent on estrogen that affects 10% of women of reproductive age. It is characterized by the ectopic growth of endometrium-like tissue that causes pain, infertility, and compromised quality of life. The pathogenesis of endometriosis is multifactorial and involves hormonal disturbance, dysregulation of the immune system, a genetic predisposition, and environmental factors. The older theories, such as retrograde menstruation, do not provide adequate explanatory power and therefore further explores stem cell and epigenetic mechanisms. The diagnosis of endometriosis is challenging due to nonspecific symptoms and the reliance on invasive laparoscopy for confirmation in the context of few reliable non-invasive biomarkers. Next-generation sequencing (NGS) and RNA-sequencing (RNA-seq) have radically changed the landscape of molecular diagnostics in identifying key gene expression signatures, dysregulated pathways, and epigenetic marks reflective of immunity, hormonal-signaling, and inflammation. While single-cell RNA-seq has identified cellular diversity within lesions, highlighting population of interest in the immune and stromal compartments that drive disease progression. Circulating biomarkers, including cell-free DNA, exosomal RNA, and microRNAs, has demonstrated utility in their early detection and potential to as a non-invasive diagnostic tool. Targeted NGS gene expression panels have implications for patient stratification and prognostication as somatic mutations and microsatellite instability can be interrogated. Multi-omics and bioinformatics approaches can enable precision diagnostics and personalized therapeutic regimens. This paper provides a comprehensive review of the literature, and outlines the transformative role of RNA-sequencing and NGS in diagnosing endometriosis.
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A Review on Integrated Transcriptomic and Immunogenic Epitope Analysis for Non-Invasive Diagnosis of Endometriosis
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Endometriosis is a chronic inflammatory disease dependent on estrogen that affects 10% of women of reproductive age. It is characterized by the ectopic growth of endometrium-like tissue that causes pain, infertility, and compromised quality of life. The pathogenesis of endometriosis is multifactorial and involves hormonal disturbance, dysregulation of the immune system, a genetic predisposition, and environmental factors. The older theories, such as retrograde menstruation, do not provide adequate explanatory power and therefore further explores stem cell and epigenetic mechanisms. The diagnosis of endometriosis is challenging due to nonspecific symptoms and the reliance on invasive laparoscopy for confirmation in the context of few reliable non-invasive biomarkers. Next-generation sequencing (NGS) and RNA-sequencing (RNA-seq) have radically changed the landscape of molecular diagnostics in identifying key gene expression signatures, dysregulated pathways, and epigenetic marks reflective of immunity, hormonal-signaling, and inflammation. While single-cell RNA-seq has identified cellular diversity within lesions, highlighting population of interest in the immune and stromal compartments that drive disease progression. Circulating biomarkers, including cell-free DNA, exosomal RNA, and microRNAs, has demonstrated utility in their early detection and potential to as a non-invasive diagnostic tool. Targeted NGS gene expression panels have implications for patient stratification and prognostication as somatic mutations and microsatellite instability can be interrogated. Multi-omics and bioinformatics approaches can enable precision diagnostics and personalized therapeutic regimens. This paper provides a comprehensive review of the literature, and outlines the transformative role of RNA-sequencing and NGS in diagnosing endometriosis.
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