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September 18, 2019
Sponsored by
Bionano Genomics

Highly Sensitive Structural Variant Detection for Medical Genetics: A Comparison to the Standard of Care


This webinar outline how a team at Radboud University Medical Center is assessing ultra-long read optical mapping on the Bionano Saphyr system to replace classical cytogenetics approaches in routine testing and for the discovery of novel structural variants with potential scientific, prognostic, or therapeutic value that are missed by standard approaches.

Structural variants (SVs) are an important source of genetic variation in the human genome and they are involved in multiple diseases, including cancer and developmental disorders. The short read lengths of next-generation sequencing pose a limitation for identification of structural variants, which means that in the diagnostic setting, comprehensive analysis of all structural aberrations in a given sample still requires a combination of techniques, such as copy number variant (CNV) microarrays, karyotyping, and fluorescence in situ hybridization.

The Bionano technology for whole-genome optical mapping offers an extremely long-read technology, providing unmatched sensitivity to detect structural variation, genome-wide, at low cost and at a variant allele fraction as low as 5 percent. Bionano’s de novo maps can resolve complex repetitive regions, identify CNVs, and elucidate genome-wide structural variation like balanced/unbalanced translocations, inversions, and indels with high sensitivity and precision.

In this webinar, Dr. Alexander Hoischen discusses a study to systematically compare the sensitivity and specificity of high-resolution optical mapping in 100 leukemia samples and 50 samples with known germline cytogenetic aberrations against the standard-of-care workflow, and discuss how optical mapping can facilitate the next major advancements in medical genetics. This presentation supports the view that the combination of classical approaches could be largely replaced by high-resolution optical mapping as implemented on the Bionano Genomics Saphyr system. 

For Research Use Only. Not for use in diagnostic procedures.

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