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HUMAN applications


Unlock new understanding in undiagnosed diseases and human genome discovery with leading sensitivity and specificity for large-scale structural variations from Bionano Saphyr™.
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Human Genome Research

The promise of genomics in relation to human disease is being held back by the inability to resolve large structural variations. Existing technologies, including next-generation sequencing (NGS), diagnose less than 50% of patients with genetic disorders.1,2 Bionano genome mapping offers unmatched structural variation discovery, making Saphyr™ essential to human genome and translational research.