Optical Genome Mapping versus Whole-Genome Sequencing in the Clinical Diagnosis of Gynecological Mesenchymal Tumors

Optical genome mapping (OGM) enables high-resolution detection of structural variants (SVs) and copy number aberrations (CNAs) using ultra-long DNA molecules and minimal bioinformatics processing. Its diagnostic utility in solid tumors remains underexplored. Whole-genome sequencing (WGS) offers comprehensive variant detection but is resource-intensive. This study presents a technical benchmarking of OGM versus WGS for mesenchymal tumors of the gynecological tract.We prospectively analyzed 25 uterine mesenchymal tumors using matched WGS, transcriptome sequencing, and OGM.