This Collection focuses on the application of Optical Genome Mapping (OGM) technology in the clinical diagnosis of genetic diseases. With its whole - genome molecular markers and high resolution, OGM technology can efficiently detect chromosomal structural variations and easily locate and map the breakpoints or connection points of complex rearrangements. This further explains the functional effects driven by these structural changes, providing new possibilities for the precise diagnosis of genetic diseases.
The Collection will explore the technological advantages of OGM in clinical practice and its continuous innovation, including its high resolution and accuracy in detecting complex genomic variations. It will also discuss how continuous technological innovation can promote the widespread application of OGM in clinical diagnosis, with the expectation of bringing greater clinical benefits to patients with genetic diseases.
We sincerely invite submissions of original research, reviews, and technical reports on OGM technology optimization, methodological validation, and clinical translation studies. Through this Collection, we hope to gather the latest research findings in this field, promote academic exchange, and promote the standardized application of OGM technology in the diagnosis of genetic diseases.