Publication reveals in side-by-side comparison that method using pacbio sequencing detects only 72% of the large structural variants detected by optical genome mapping with saphyr

San diego, dec. 23, 2020 (globe newswire) -- bionano genomics, inc. (nasdaq: bngo) announced the publication of a study by the human genome structural variation consortium (hgsvc) revealing that their sequencing method based on pacbio hifi reads detected only 72% of the large svs that bionano's optical genome mapping (ogm) detected across 32 different human genomes. the consortium developed its custom sequencing method by combining sequencing with pacbio and the single-strand prep and sequencing method strandseq to establish a comprehensive catalog of human svs with base-pair and haplotype resolution. the cost of this method is estimated, based on list pricing, to be between $10,000 and $20,000 per genome. ogm with saphyr, which costs less than $500 per genome, was shown to be significantly more sensitive than the sequencing method.
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