Largest study to-date focused on undiagnosed genetic disease patients reveals that bionano's optical genome mapping technology can diagnose significantly more patients than standard of care methods alone

Publication from ucsf shows bionano's optical genome mapping technology can detect pathogenic variants missed by whole exome sequencing and by chromosomal microarray in patients with rare genetic disorders and may contribute to more patients receiving definitive molecular diagnoses publication from ucsf shows bionano's optical genome mapping technology can detect pathogenic variants missed by whole exome sequencing and by chromosomal microarray in patients with rare genetic disorders and may contribute to more patients receiving definitive molecular diagnoses
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