EP334: Optical genome mapping workflow for constitutional genomic structural and copy number variation and analysis

Abstract

The ability to detect a breadth of variants and prioritize the most interesting is desirable for constitutional disorder workflows. In contrast to methods like karyotyping, chromosomal microarray (CMA), fluorescence in situ hybridization (FISH), or sequencing, optical genome mapping (OGM) is sufficiently versatile to resolve classes of structural variants from large-scale fusions to intragenic deletions/insertions. OGM also identifies copy number variants (CNV), absence of heterozygosity (AOH), aneuploidy, and triploidy in an easy-to-master technical and analytical workflow.