Whole Genome Imaging for Detection of Structural Variants in Constitutional Disease

2020-04-20T22:51:45Z (GMT) 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.