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Next Generation Cytogenomics

Optical Genome Mapping (OGM)

Optical genome mapping (OGM) is a promising new technique that provides a high-resolution genome-wide analysis to uncover copy number and structural anomalies, including balanced translocations, by scanning ultra-high molecular weight DNA molecules. Usually, a combination of several techniques is necessary to explore the full spectrum of structural variants (SVs). OGM has the potential to comprehensively identify all classes of SVs, including large SVs and CNVs, as well as pathogenic repeat contractions and expansions in a single experiment. OGM is becoming a valuable tool in pre- and postnatal testing for genetic disorders and hematological malignancies.

The CCG has acquired a Saphyr system from Bionano Genomics. For appropriate sample preparation, see the workflow to isolate ultra-high molecular weight DNA from fresh or frozen blood, cultured cells, and plant and animal tissues.



Genotyping Team