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Two weeks ago, Bionano Genomics Inc. ($BNGO) got our attention with the launch of the Bionano Prep™ SP Tissue and Tumor Kit – a tool and kit that makes the analysis of tissue and solid tumors much easier. This article further highlighted the worldwide interest in the Bionano Saphyr® system. Practice showed that several hospitals from different continents showed sincere interest in the Saphyr system. In the past 14 days, this news has been followed up by new interesting findings.

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Which previous developments should not be missed

First, a short summary of what was reported earlier about the great interest in the Bionano Saphyr® system. The British NHS hospital made a purchase to study 210 leukaemia patients, the Medical College of Wisconsin is using the Saphyr system to expand analyses on complex childhood diseases, and Yonsei University Hospital announced its intention to use the Saphyr system to analyse the genomes of patients with various genetic diseases and cancers. This is due to an earlier analysis in which the Bionano Saphyr® system identified a missed variant and also discovered additional specific gene-related structural variants. Later the results corresponded to clinical findings, whereas this had not been noted in previous results with other diagnostic tools.

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Bionano Genomics is the smartest boy in the classroom

The interest in Bionano Genomics increased significantly. Especially after the ground breaking result of another analysis. On July 16, 2020, Bionano Genomics announced that the very first complete assembly of a human chromosome used their genome imaging technology to assemble the genome correctly and verify its accuracy. The University of California, Santa Cruz and the National Human Genome Research Institute founded an international research team to assemble the X chromosome. This led to a worthy conclusion. A complete, gap-free space construction of the human X chromosome could be seen. Whereas previous systems mainly generated this structure, the Saphyr system is used to correct assembly errors in the chromosome. Bionano Genomics is proud of the results and its essential role in the search for the first complete telomere-to-telomere assembly of the human chromosome. Never before has the ability to achieve such high quality assemblies been realized. Because it is not sequencing, the Saphyr system is now considered unique in the medical world and with that comes the high-potential for this system.

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Not much later, on 20 July 2020, Laila El Khattabi of the Cochin Hospital in Paris and Alexander Hoischen of the Radboud University Medical Centre in the Netherlands published a report focused on the findings of the use of Bionano’s Saphyr genome imaging instrument. The study shows that the power of high-resolution optical mapping has been achieved and that it can detect virtually all types of chromosomal aberrations within the spectrum of karyotype, FISH and CNV microarray. The findings of both authors are very positive and they expect significant benefits from the use of Saphyr for diagnoses. For example, the technology will provide a simple workflow adjustment using routine analysis. Alex Hoischen is of the opinion that by combining NGS and Saphyr, medics will for the first time come close to an almost perfect genome analysis. Laila El Khattabi added that the Saphyr for developmental disorders can be a nice addition to NGS and will possibly replace the chromosomal microarray analysis.

Moving from one technological advancement to another

Today (23 July 2020), Nature magazine shows that Bionano’s genome imaging technology has been used to determine one of the largest and most structurally accurate sets of genome data. The aim of this research is to identify a cohort of affected children and their parents in the most common genomic deletion syndrome. This genomic deletion syndrome is better known as 22q11.2 Deletion Syndrome (22q11.2DS). It’s a congenital malformation disorder and also the most common microdeletion syndrome. The region 22q11.2 wasn’t correctly fitted with other sequencing technologies, because of its size, regional complexity and the diversity would be too complex. Bionano’s genome imaging technology has proven that it can capture the characterisation of complex repetitive areas, thanks to its unique ability to illustrate extremely long, single DNA molecules.

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