Vertebrate Genome Project Selects Bionano Optical Mapping...

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Vertebrate Genome Project Selects Bionano Optical Mapping Technology as Essential Part of Assembling Reference Quality Genomes

By Pharma Tech Outlook | Tuesday, September 29, 2020

Erik Holmlin, CEO

Publication examining modern technologies for sequencing and genome assembly opts Bionano optical maps to develop all vertebrate reference genomes.

FREMONT, CA: Bionano Genomics, announces that the International Genome 10K (G10K) Consortium selects Bionano optical mapping technology as an essential component of their work in a review publication of all methods for assembling the most accurate and complete reference genomes to date. Based on their evaluation, the G10K Consortium will be deploying Bionano's  Saphyr System in the Vertebrate Genomes Project (VGP), an effort to generate high-quality, complete reference genomes for all 70,000 extant vertebrate species. The breadth of this project exceeds any other undertaking in genome biology and may prove to be the basis of discovering new treatments, vaccines and diagnostic tests, including helping in the search for those for COVID-19.

The study, published in bioRxiv, presents lessons learned from sequencing and assembling the genomes of 16 species representing major vertebrate lineages. The researchers found that the complex, repetitive nature of vertebrate genomes needs long-read sequencing technologies and that long-range optical maps, such as those generated by Saphyr, are vital for maximizing genome quality.

Bionano optical maps can correct errors in the sequence assembly, can span gaps caused by repetitive sequence stretches and can piece fragmented sequence assemblies together in scaffolds that span chromosome arms. This publication helps demonstrate that Saphyr is the only currently available genome analysis technology able to span the most complex regions of the genome and reveal the true structure of the genome.

 Bionano is a genome analysis company offering tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and offering diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Saphyr system is a platform for ultra-sensitive and ultra-specific structural variation identification that allows researchers and clinicians to speed up 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.

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