Bionano Genomics, Inc. (Nasdaq: BNGO) today announced
that disease researchers using Bionano’s Saphyr system for whole genome
imaging will present their results at the American Society of Human
Genetics (ASHG) Annual Meeting, between October 15-19 in Austin, Texas.
The impact of analysis using the Saphyr system for
ultra-sensitive and ultra-specific genome-wide detection of structural
variation will be presented at ASHG with 22 oral and poster
presentations and an Educational Event hosted by Bionano.
“ASHG 2019 represents a milestone for Bionano, with a
record number of presentations demonstrating novel discoveries through
our genome mapping technology,” said Erik Holmlin, Ph.D., CEO of
Bionano. “The growing use of the Saphyr system in disease research
illustrates the value in identifying genomic variations for deep
understanding of disease origin and diagnostic development.”
Optical mapping through Saphyr enables the direct
observation of large genomic variations through imaging of fluorescently
labeled, megabase-size native DNA molecules. Next-generation sequencing
(NGS), in contrast, relies on short-reads that piece together sequence
fragments in an attempt to rebuild the actual structure of the genome.
NGS often misses large DNA variations, such as deletions, insertions,
duplications, and translocations and inversions. Genome mapping resolves
these structural variations for more insight into the genetic
variations that cause disease.
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