Abstract
Optical genome mapping (OGM) is a next-generation cytogenomic technology that has the potential to replace standard-of-care technologies used in the genetic workup of various malignancies. The ability to detect various classes of structural variations that include copy number variations, deletions, duplications, balanced and unbalanced events (insertions, inversions, and translocation) and complex genomic rearrangements in a single assay and analysis demonstrates the utility of the technology in tumor research and clinical application. Herein, we provide the methodological details for performing OGM and pre- and post-analytical quality control (QC) checks and describe critical steps that should be performed with caution, probable causes for specific QC failures, and potential method modifications that could be implemented as part of troubleshooting. The protocol description and troubleshooting guide should help new and current users of the technology to improve or troubleshoot the problems (if any) in their workflow.
Original language | English (US) |
---|---|
Article number | e910 |
Journal | Current Protocols |
Volume | 3 |
Issue number | 10 |
DOIs | |
State | Published - Oct 2023 |
Keywords
- blood
- cells
- method
- oncology
- optical genome mapping
- solid tissue
- troubleshooting
ASJC Scopus subject areas
- General Immunology and Microbiology
- General Pharmacology, Toxicology and Pharmaceutics
- Medical Laboratory Technology
- General Biochemistry, Genetics and Molecular Biology
- Health Informatics
- General Neuroscience