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Structural variations result in rare genetic disorders when they disrupt key genes or change their dosage in the genome. Short-read sequencing approaches can detect deletions but are less useful in identifying and localizing insertions in the genome. When the structural variations are large or in complex regions, even long-read sequencing approaches will not be able to characterize them properly. Optical mapping is an efficient way to identify large structural variations, determine their breakpoints, and place large insertions uniquely in the genome. Optical mapping can be applied successfully in the molecular diagnosis of rare genetic diseases by performing fine karyotyping, copying number analysis, and breakpoint analysis of microdeletion syndromes.

In this Clinical OMICs webinar, we will hear how NGS has failed to live up to the promise of identifying large structural variations that result in rare genetic disorders when they disrupt key genes or change their dosage in the genome. Dr. Pui-Yan Kwok from the University of California, San Francisco, will demonstrate how optical mapping has consistently proven to be an accurate and efficient way to identify large structural variations, determine their breakpoints, and place with visual clarity large insertions uniquely within the genome.