Levy Brynn, Burnside Rachel D, Akkari Yassmine
Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Department of Pathology, Immunology, and Laboratory Medicine, University of Florida, Gainesville, FL 32610, USA.
Genes (Basel). 2025 Jul 31;16(8):924. doi: 10.3390/genes16080924.
Optical genome mapping (OGM) has recently emerged as a new technology in the clinical cytogenomics laboratories. This methodology has the ability to detect balanced and unbalanced structural rearrangements using ultra-high molecular weight DNA. This article discusses the uses of this new technology in both constitutional and somatic settings, its advantages as well as opportunity for improvements. We reviewed the medical and scientific literature for methodology and current clinical uses of OGM. OGM is a recent addition to the methods used in cytogenomics laboratories and can detect a wide range of structural and copy number variations across a plethora of diseases. Clinical cytogenomics is an important laboratory specialty for which various technologies have been validated over the last several decades to improve detection of copy number and structural variations and their association to human disease. OGM has proven to be a powerful tool in the arsenal of clinical laboratories and provides a unified workflow for the detection of chromosomal aberrations across a wide range of diseases.
光学基因组图谱（OGM）最近已成为临床细胞基因组学实验室中的一项新技术。该方法能够使用超高分子量DNA检测平衡和不平衡的结构重排。本文讨论了这项新技术在遗传性和体细胞环境中的用途、其优势以及改进的机会。我们查阅了医学和科学文献，以了解OGM的方法和当前临床应用。OGM是细胞基因组学实验室使用的方法中的最新成员，可检测多种疾病中的广泛结构和拷贝数变异。临床细胞基因组学是一个重要的实验室专业领域，在过去几十年中，各种技术已经得到验证，以提高对拷贝数和结构变异及其与人类疾病关联的检测。OGM已被证明是临床实验室武器库中的一个强大工具，并为检测广泛疾病中的染色体畸变提供了统一的工作流程。
