by What is Optical Genome Mapping Industry?
Optical genome mapping is an emerging genomic analysis technique that helps provide a high-resolution, genome-wide view of a genome. Unlike traditional sequencing which reads hundreds of DNA bases at a time, optical mapping helps visualize entire chromosomes to detect large genomic rearrangements like deletions, duplications, inversions, and translocations that are often missed with other methods. Optical Genome Mapping uses a technique called OpGen to create physical genome maps at a higher resolution than traditional cytogenetic methods like karyotyping.
How Does Optical Genome Mapping Industry Work?
Optical mapping involves extracting and stretching individual DNA molecules from a genomic sample on glass slides using microfluidics. The DNA molecules are then stained with fluorescent dyes that illuminate specific sequences without altering the genomic structure. A high-powered nanoscope then takes thousands of images of these stained DNA molecules to visualize its overall structure at the megabase scale. Sophisticated algorithms are then used to align and assemble these raw images into continuous whole genome maps that provide a comprehensive view of each chromosome’s size, organization and alterations across its entire length.
Advantages of Optical Genome Mapping
By visualizing entire megabase-sized regions of the genome simultaneously, optical mapping offers several advantages over sequencing:
It can detect complex structural variants like inversions and translocations that are difficult to characterize with short-read sequencing alone.
It provides structural context to identify inheritable disorders and pinpoint disease-causing mutations.
Assembled genome maps serve as scaffolds to improve genome assemblies in regions that are difficult to resolve with fragment-based sequencing.
Optical mapping’s ability to image entire chromosomes helps clinicians characterize chromosomal abnormalities and resolve complex genomic rearrangements associated with genetic diseases and cancers.
Applications in Genomic Research and Medicine
Due to its megabase-scale resolution, high throughput and ability to characterize complex genome structures, optical mapping is being increasingly utilized across various areas of genomic research and clinical diagnostics:
Disease Research: Optical maps reconstructed from patient samples are helping researchers study genomic causes behind several diseases from autism to cancers. They are pinpointing pathogen genomics, tracking viral outbreaks and tracing disease transmission events.
Precision Medicine: Clinical geneticists are combining optical mapping with sequencing to diagnose chromosomal anomalies, resolve complex genome alterations underlying genetic disorders and improve treatment selection. This is revolutionizing precision diagnostics and therapy.
Cancer Research: Visualizing structural variations in tumor genomes through optical mapping helps understand cancer evolution, identify mutational signatures and develop targeted therapies. It is becoming integral to companion diagnostics development.
Genome Assembly: As reference maps, optical maps are improving de novo assemblies of various species genomes by scaffolding sequencing contigs into chromosomes and detecting assembly errors and gaps. This enhances downstream genomic analyses.
Forensic Investigations: Optical mapping applications in forensics includes human identification, paternity testing, ancestry tracing and investigating crime scenes through genetic evidence.
The Future of Global Optical Genome Mapping
As the technology matures, optical mapping is poised to transform genomics on a global scale. Cost reductions will make it routinely applicable in clinical diagnostics and biobanks worldwide. New computational tools will improve analytical capabilities to detect variations down to the kilobase level.
Combining optical maps with long read sequencing technologies will revolutionize complex genome analysis. Cloud-based global mapping initiatives will help collate genomic structural variations between populations. This will offer new insights into human diversity, migration patterns and disease susceptibilities.
Optical mapping foundational research continues to make key scientific discoveries. International collaborations will optimize mapping protocols for various genome types including plants and microbial communities. Overall, ubiquitous optical genome mapping promises to revolutionize genomic medicine delivery while advancing basic life science research across the globe.
*Note:
1. Source: Coherent Market Insights, Public sources, Desk research.
2. We have leveraged AI tools to mine information and compile it.
