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UK NHS, Medical College of Wisconsin and Yonsei University use Bionano Saphyr.

Bionano Genomics announced that King's College Hospital London in the UK, the Medical College of Wisconsin, and Yonsei University Hospital, the leading South Korean University Hospital, have adopted the Saphyr system. The addition of Saphyr allows their scientists and clinicians to achieve comprehensive analysis of chromosomal aberrations and structural variations, including some that are unresolved by other current technologies, such as chromosomal microarray and next-generation sequencing technology. King's College Hospital London acquired the Saphyr system to perform a study on 210 leukemia patients. Their objective is to validate Saphyr's performance in digital cytogenetics, with the ultimate goal of replacing the use of standard cytogenetic methods in their laboratories with Bionano genome imaging altogether. King's College Hospital is the second NHS center to adopt Saphyr, after the NHS Lothian in Edinburgh, Scotland. The Medical College of Wisconsin plans to use Saphyr to expand their analyses on pediatric complex diseases beyond the copy number variants that can be detected with chromosomal microarray and add the balanced variants such as inversions and translocations that are missed by array. Yonsei University Hospital, one of the oldest and biggest university hospitals in South Korea, treats approximately 4,000,000 patients annually. They intend to use Saphyr to analyze the genomes of patients with various genetic diseases and cancer. As part of their initial validation of Saphyr, a patient with contradicting results generated by traditional cytogenetic methods of karyotyping and chromosomal microarray was analyzed. Saphyr identified the missed variant and detected additional specific gene-related structural variants that matched clinical findings and was not seen in previous results by any existing diagnostics tools.

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Publication:The Fly
Geographic Code:4EUUK
Date:Jun 26, 2020
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