{"paper_id":"37a96e9a-72c8-4f80-89fa-1a12f61b7170","body_text":"A Review on Integrated Transcriptomic and Immunogenic Epitope Analysis for Non-Invasive Diagnosis of Endometriosis\nAuthors/Creators\nDescription\nEndometriosis 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.\nFiles\n81-Ilakiya Mohankumar.pdf\nFiles\n(4.5 MB)\n| Name | Size | Download all |\n|---|---|---|\n|\nmd5:1583a637da195bcceadf9a5d3f93a711\n|\n4.5 MB | Preview Download |","source_license":"CC0","license_restricted":false}