SAN DIEGO, Dec. 15, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced the publication of a paper in the Proceedings of the National Academy of Sciences (PNAS) that describes the detailed characterization of how and where the human herpesvirus 6 (HHV-6) integrates in the human genome of its hosts. The study, which involved an international collaboration of scientists from prestigious institutions including the Freie Universität Berlin and the Fred Hutchinson Cancer Research Center at the University of Washington, used optical genome mapping with Saphyr to determine precisely the location of the viral sequence in the human telomeres, a region of the genome that is known to be difficult to analyze by next-generation sequencing.
Infection with HHV-6 can cause roseola, heart disease, and brain inflammation. This paper describes how previous attempts to characterize the integration of HHV-6A and HHV-6B with existing molecular analysis technologies have failed. The authors, led by Dr. Kaufer, state that fluorescent in-situ hybridization (FISH), PCR amplification and Sanger sequencing, next-generation sequencing (NGS) using various platforms, and long-read sequencing using Oxford Nanopore Technologies all were unable to identify the correct integration site and measure the telomere sequences flanking the inserted virus, while Saphyr did. Additionally Saphyr revealed the orientation of the virus and identified the presence of long telomeres at both sides of the integrated virus genome.
Erik Holmlin, Ph.D., CEO of Bionano Genomics commented, “The integration of viruses in the human genome can cause lifelong suffering, and in the case of HHV, can be genetically passed on to next generations, yet their location in the genome and the mechanisms with which their integration causes disease is poorly understood. Saphyr’s unique ability to image extremely long DNA molecules without being bogged down by repetitive sequences makes it a highly useful tool to locate and characterize these inserted virus sequences in ways that existing sequencing-based methods have been unable to achieve. This study adds to the increasing number of publications demonstrating how Bionano’s optical genome mapping can characterize diseases mediated by or involving repetitive elements, which make up two thirds of the human genome.”
The publication is available in the Proceedings of the National Academy of Sciences of the United States of America at https://www.pnas.org/content/117/49/31410.long.
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, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. 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. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visit www.bionanogenomics.com or www.lineagen.com.
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Erik Holmlin, CEO
Bionano Genomics, Inc.
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Darren Opland, PhD
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