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Tecan Journal

Selected category: Saphyr system

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Building capabilities in optical genome mapping – going beyond next-generation sequencing

Large structural variations in the genome are responsible for many diseases and conditions, including cancers and developmental disorders. Gene changes – including insertions or deletions, translocations, inversions and duplications – can lead to alterations in how and when a gene is expressed, impacting on a wide range of in vivo processes. Bionano has developed an optical genome mapping platform offering high speed, high throughput whole genome mapping to support genomic research into human disease.

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