Bionano reports studies show optical genome mapping detects genetic variants in reproductive health

Bionano Genomics (NASDAQ: BNGO) announced that 13 studies published in 2026 involving 730 samples demonstrated the utility of optical genome mapping (OGM) in detecting structural variants related to reproductive health and prenatal genetic disorders.

The studies, conducted by independent research groups across multiple countries, examined applications including male infertility, assisted reproduction, recurrent pregnancy loss, and prenatal diagnosis. Sample types included peripheral blood, prenatal specimens, and products of conception.

According to the company, key findings from nine studies showed OGM identified genetic causes in 25% of subjects with unexplained infertility among 220 individuals. The technology revised or corrected genetic findings in 58.3% of assisted reproduction cases and detected chromosomal rearrangements in recurrent miscarriage cases that conventional testing missed.

In prenatal applications, OGM showed up to 99.03% concordance with standard diagnostic methods across 217 samples while identifying additional structural variants. The technology identified genetic basis for spontaneous abortion in 66.7% of parental cases across 24 cohorts.

"These studies further expand the reach of the now more than 12,500 published clinical research genomes analyzed with OGM," said Alka Chaubey, chief medical officer of Bionano.

The studies employed various experimental designs including prospective cohort analyses and retrospective reanalysis. OGM was evaluated alongside standard methods including karyotyping, chromosome Y microdeletion testing, and whole-exome sequencing.

Bionano provides genome analysis solutions through optical genome mapping technology for research and clinical applications. The company also offers diagnostic testing services through its Bionano Laboratories business.

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