Benzinga | Feb 25, 2021 05:33PM EST

Bionano Genomics Highlights Publication In Science Journal Of A Study By Human Genome Structural Variation Consortium Using Co.'s Saphyr

Article published in Science reveals that optical genome mapping uniquely makes thousands of large structural variant calls

SAN DIEGO, Feb. 25, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (NASDAQ:BNGO) announced the publication in Science of a study by the Human Genome Structural Variation Consortium (HGSVC) that used a combination of advanced sequencing and optical genome mapping (OGM) with Saphyr to assemble with high resolution and structural accuracy 64 haplotype-resolved human genomes from 32 individuals representing 25 different populations. The peer-reviewed publication, which previously appeared on the pre-print server bioRxiv, builds on the original Human Genome Project to better capture genetic diversity by cataloging both single nucleotide variations (SNVs) and structural variations (SVs) from each individual reference-quality genome assembly compared to the standard human genome reference. The resulting assemblies and catalog of SNVs and SVs can serve as a diversity panel that researchers and clinicians can use to accelerate the discovery of new therapeutic targets and pathogenic genetic variations by making it easier and faster to filter out variation that is representative of population diversity. They further enable population-specific studies on genetic predispositions to human diseases as well as the potential discovery of more complex forms of genetic variation.

Regarding OGM's contribution to the variants that were identified, OGM uniquely made 5,590 large SV calls missed by long-read based genome assemblies, corresponding to 1,175 unique SV loci. Many of these large SVs consisted of more complex rearrangements or overlap with large repetitive areas called segmental duplications which are associated with developmental delay and adult neuropsychiatric disease, highlighting the importance of OGM in genome structure analysis.

"Bionano is proud that OGM has made such a significant contribution to this impressive work," commented Erik Holmlin, PhD, CEO of Bionano Genomics. "OGM complements even the most advanced sequencing technology and plays an essential role in identifying large structural variants, including those in the most complex parts of the genome, as the authors of this study pointed out. We believe the study by the HGSCV underscores the point that if you are performing a genome analysis without getting an accurate structural picture, you are not doing a deep enough analysis. It further illustrates that when it comes to looking for large SVs, OGM with Saphyr has unmatched sensitivity."

The work by the HGSVC is an extension of the human genome project. In 2001, the International Human Genome Sequencing Consortium announced the first draft of the human genome reference sequence. This reference does not represent a single individual but instead is a composite of humans that could not accurately capture the complexity of human genetic variation. Building that reference, scientists have carried out many sequencing projects over the last 20 years to identify and catalog genetic differences between an individual and the reference genome. Those projects usually focused on small single base changes and missed SVs, which are widely viewed to be more likely than smaller genetic differences to interfere with gene function. This article in Science has been published by an international research team and represent a significant advance in the tools available for scientists and clinicians who want to discover new biology en route to new medicines and diagnostics that can improve outcomes for patients.

The publication is available at https://science.sciencemag.org/lookup/doi/10.1126/science.abf7117