What is Optical Genome Mapping Industry?
Optical genome mapping is a technique used to map the entire genome of an organism using nanochannel array technology and high-resolution, multicolor fluorescence microscopy. This allows researchers to visualize whole genomes at a megabase-scale resolution. This means they can see structural variations in chromosomes like insertions, deletions, inversions and translocations that are often missed with traditional sequencing methods.
Using optical mapping, researchers can generate reference maps of whole genomes which provide context about genome organization and architecture beyond just the sequence. Generating whole genome optical maps allows scientists to assemble the Optical Genome Mapping in fewer pieces compared to short-read sequencing alone. The long-range information from optical maps helps anchor and order the DNA sequence contigs and identify structural variants.

Benefits of Optical Genome Mapping Industry
Some key benefits of optical genome mapping include:
Identification of structural variations: Optical maps allow researchers to detect large insertions, deletions, inversions and translocations that occur at frequencies of 1% or more but are often missed with other technologies. This information is important for studying genetic diseases linked to chromosome rearrangements.
Scaffolding genome assemblies: The long-range mapping information from optical maps helps assemble genome sequences that are fragmented into many smaller contigs using short-read sequencing alone. Optical maps provide scaffolding context to anchor and properly order the contigs.
Detection of genomic changes: Researchers can use optical mapping to detect pathogenic genome changes associated with cancers or genetic disorders. They can also map genomes of related species to study evolution.
Clinical applications: In the future, optical mapping could enable rapid screening for pathogenic structural variants in clinical genetics. It may become a valuable tool for molecular diagnostics, personalized medicine and disease research.

With continuous technological upgrades, optical genome mapping is positioned to transform human health research and become a mainstream technique supporting personalized genomic medicine globally. By detecting clinically-relevant genome architecture, it can advance diagnosis, prognosis and targeted therapies to improve patient outcomes.

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