P649: Clinical validation and implementation of optical genome mapping

Genetics in Medicine Open 2026 Open access

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Authors: Xinrui Shi, Lexi Coyan, Brittany C. Jones, Adam Kaddoura, Emily Liston, Danielle Hilton, Elizabeth A. Ulm, Lindsey Miyagawa, Casey Brewer, Jie Liu
DOI: 10.1016/j.gimo.2026.104139
Cited by: 0

Abstract

Optical genome mapping (OGM) is an emerging technology that enables high-resolution detection of structural variants (SVs), including both balanced and unbalanced rearrangements. By leveraging ultra-high molecular weight DNA molecules and single-molecule imaging, OGM uncovers clinically relevant SVs, including copy number variants, that may be missed by next-generation sequencing (NGS) or conventional cytogenic methods. Here, we present our clinical validation and implementation of OGM in a CLIA-certified laboratory, establishing analytical performance and assessing its diagnostic utility in constitutional genetic testing.

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Genome Rearrangement Algorithms

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104139–104139
Publication date
1 January 2026
Language
EN