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Whole Genome Imaging for Detection of Structural Variants in Constitutional Disease

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posted on 20.04.2020, 22:51 by Jill Lai
The Bionano Saphyr workflow can accurately assemble and assay relevant regions for each of the above mentioned disease classes, even those involving very large segmental duplications.
The Saphyr™ system provides direct visualization of long DNA molecules in their native state
Bionano has developed bioinformatics tools to effectively prioritize the ~6000 genome wide structural variants based on the estimated frequency in a control population, whether it’s inherited or de novo, whether it’s somatic and also in proximity to a gene.

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