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Bionano Genomics is a life science company transforming the way the world sees the genome using optical genome mapping for the detection of genome-wide structural variants.
The Saphyr and Stratys systems image ultra-long, linearized DNA molecules labelled at specific sequence motifs. Comparative analysis of the label patterns over long contiguous reads across the whole genome reveals structural variants (>500 bp). All major types of large structural variants can be detected at variant allele fractions of 5%.
The process of Optical Genome Mapping (OGM) commences by isolating ultra-high molecular weight (UHMW) DNA from various sources such as blood, bone marrow aspirates, cultured cells (including chorionic villi and amniocytes), tissue, or tumor biopsies. Subsequently, fluorescent labels are uniformly applied to the genome via a single enzymatic reaction, targeting specific sequence motifs. These labeled DNA molecules are then stretched and aligned within nanochannel arrays on a chip. Utilizing software solutions, changes in label patterning or spacing are meticulously analyzed to accurately detect all types of structural variants (SVs). OGM data can be interpreted independently or integrated with sequencing or array data for comprehensive genomic analysis.
When employing Optical Genome Mapping (OGM), structural variations are directly observed rather than inferred, as is common with next-generation sequencing (NGS). Unlike NGS, where short-read sequences are aligned to reference genomes, OGM images megabase-size native DNA molecules, allowing for direct observation of most large structural variations or their breakpoints within the label pattern on the molecules. Moreover, structural variations can often occur within the repetitive sequences that constitute a significant portion of the genome. NGS faces challenges in accurately assessing variation within and around these repetitive sequences. OGM, however, circumvents these limitations, offering the ability to uncover changes within repetitive regions that may contribute to human disease.
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