Benzinga | Jan 15, 2021 08:14AM EST

Day Four of Bionano's Next-Generation Cytogenomics Symposium: Saphyr Solves Genetic Mysteries, Enables Study of Complex Genetic Diseases, Simplifies Muscular Dystrophy Testing

2 Saphyr can measure large expansions of disease-causing genomic repeats, impossible with other modern techniques, enabling study of a broad range of currently inaccessible genetic diseases

4 Genetic disease cases undiagnosed using existing methods were solved by optical genome mapping

6 Assays developed on Saphyr by University of Iowa and KU Leuven for FSHD muscular dystrophy testing provide unambiguous results in half the time, for half the cost of current standard

8 Bambino Ges? Hospital in Rome, the largest children's hospital in Italy, is implementing a Saphyr-based assay they developed for routine diagnostic use in children with genetic disorders

SAN DIEGO, Jan. 15, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (NASDAQ:BNGO) announced that day four of its five-day Next-Generation Cytogenomics Symposium featured seven Saphyr users presenting their results and experiences using the Saphyr(r) system for optical genome mapping (OGM) to analyze the genomes of patients with genetic diseases largely caused by the expansion or contraction of genomic repeats. Repetitive parts of the genome can expand to tens of thousands of copies and alter the function of genes they are in or near. Long repeats are typically inaccessible by sequencing, while OGM's imaging of long molecules allows for the repeats to be spanned and accurately sized. The presentations by scientists and clinicians from leading hospitals and medical research institutions in Europe and the US showed that Saphyr allows for the study of the many regions of the genome that contain repeats and couldn't be accurately assessed with sequencing technologies or other modern methods.