Bionano’s Saphyr data was considered the gold standard for structural accuracy used to correct structural errors in the assembly
SAN DIEGO, July 16, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO), today announced that the first ever complete assembly of a human chromosome utilized its genome imaging technology to assemble the genome correctly and verify the accuracy. In a publication in Nature (Miga, K.H., Koren, S., Rhie, A. et al. Telomere-to-telomere assembly of a complete human X chromosome. Nature (2020). https://doi.org/10.1038/s41586-020-2547-7), an international team led by investigators from the University of California, Santa Cruz and the National Human Genome Research Institute described the assembly of a complete, gap-free build of the human X chromosome, covering telomere to telomere in a single contiguous stretch. While several long-read sequencing technologies generated the majority of the sequence, optical mapping data generated with Bionano’s genome imaging instrument Saphyr was considered the ground truth for the genome structure and used to correct several assembly errors throughout the chromosome.
The authors describe how after assembling the long-read sequencing data into large scaffolds, regions of the candidate assembly, which were found to be structurally inconsistent with the Bionano optical map and were corrected by manually selecting reads from those regions and locally reassembling the data. Additionally, the authors show how Saphyr data was able to identify the mis-assembly of regions with large repeats, such as the GAGE locus which plays a role in the identification of tumors by the immune system. The assembly based on long-read sequencing alone had collapsed this large repeat. Bionano data revealed this collapse and provided the authors with an accurate number of repeats for correcting this locus in the assembly.
Erik Holmlin, Ph.D, CEO of Bionano Genomics commented: “We are pleased to be an essential part of this groundbreaking study on the first complete telomere-to-telomere assembly of a human chromosome. The ability to achieve such high quality assemblies offers the promise of better reference genomes that have the potential to accelerate the discovery of new therapeutic targets and diagnostic biomarker signatures along the way to better medicines and protocols for patient management. Bionano’s technology is unique compared to all the other methods used for this work in that it is not sequencing. The Saphyr instrument images sequence patterns on extremely long, intact fragments of the genome, including some megabase-sized molecules. Images of these individual molecules provide the only true picture of the genome structure. Sequencing-based approaches that use algorithms to piece together shorter fragments can mostly only infer structure, which leads to errors, especially in a complex genome like the human genome, which is nearly two-thirds repetitive. The team led by Adam Phillippy and Karen Miga from the National Human Genome Research Institute and University of California, Santa Cruz has enlisted some of the world’s top genomics experts in this endeavor, and we are proud to be recognized by this team as an essential tool to generate the most accurate assembly of a human chromosome to date.”
About Bionano Genomics
Bionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing. Bionano’s Saphyr system is a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. For more information, visit www.bionanogenomics.com.
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “may,” “will,” “expect,” “plan,” “anticipate,” “estimate,” “intend” and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: the anticipated use of Saphyr as gold standard for structural accuracy. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks that the new Bionano Prep SP Tissue and Tumor Kit may not be as effective as expected, as well as risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the loss of key members of management and our commercial team; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2019 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.
Erik Holmlin, CEO
Bionano Genomics, Inc.
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