Optical Genome Mapping: A One-Stop Shop for Genome Assessment?

Genomic studies center on detecting and excluding single nucleotide variants. While evaluation of structural variants remains most often performed by traditional cytogenetic approaches, these unaddressed blind spots in cytogenetic studies leave room to improve detection of clinically relevant structural variants through other methodologies including optical genome mapping, or OGM. OGM is an imaging technology that evaluates the fluorescent labeling pattern of individual DNA molecules with the resolution far exceeding conventional cytogenetic approaches. In this episode, Dr. Annette Kim, MD, PhD, FCAP, and Dr. Adrian Dubuc, PhD, FCMAG, discuss how optical genome mapping stacks up compared to established methods like FISH and karyotyping, as well as some of its current limitations.Learn more and register for the CAP's Job Prep Bootcamp, a fast-paced interactive review of pathology cases across subspecialties, delivered in a virtual format.