by What is Optical Genome Mapping Industry?
Optical genome mapping is a new genome analysis technology that can generate high-resolution, full-genome maps of an individual’s DNA. Unlike other sequencing methods, optical mapping does not determine the precise order of DNA bases. Instead, it produces a physical genome map by taking images of long stretches of individual DNA molecules stretched out and labeled with fluorescent probes. This allows researchers to see the order and orientation of large Optical Genome Mapping features such as genes, repetitive elements and structural variations.
Benefits of Optical Genome Mapping Industry
Optical mapping provides several key benefits over other genomics technologies:
Genome-wide view: Optical maps provide a whole-genome perspective, visualizing DNA at lengths of hundreds of thousands to millions of bases at once. This allows researchers to detect complex structural variants that are difficult to identify with short-read sequencing alone.
Structural variation detection: By directly imaging long segments of genomic DNA, optical mapping can detect complex structural variations like inversions, translocations and large insertions/deletions that often underlie genetic disorders and cancer but are missed by other methods.
Assembly scaffolding: Optical maps can act as guides to orient and arrange the contigs produced by genome assembly. This “scaffolding” process helps resolve repetitive regions that confound assemblers. Optical maps have been instrumental in assembling complex mammalian genomes like the human genome.
Inherited disorder diagnosis: Optical mapping enables detection of genomic rearrangements responsible for certain genetic diseases. It has proven useful for diagnosing conditions caused by complex genomic disorders not elucidated by other technologies.
Cancer research applications: The ability to directly visualize structural variations makes optical mapping well-suited for cancer genomics applications like detecting chromosome fusions and amplifications involved in tumor progression.
Advances in Optical Mapping Technology
Since its introduction in the late 1990s, optical mapping technology has undergone significant technical advances:
Enhanced resolution: Earlier instruments produced maps with ~20-50kb resolution, while current platforms resolve sub-micrometer features (~1-5kb resolution), enabling detection of smaller variations.
Automation and throughput: Initial mapping required laborious manual processing of individual DNA molecules, but modern platforms feature fully-automated sample preparation and imaging of thousands of DNA molecules in parallel.
Single-molecule sensitivity: Earlier methods required analyzing DNA fragment ensembles, while current single-molecule techniques allow reconstructing maps from individual DNA molecules.
Computational advances: Sophisticated genome assemblers and variation callers have been developed to optimally integrate optical mapping data with sequencing information.
Portability: Desktop optical mapping devices are emerging, allowing the technology to be deployed in diverse settings beyond core genomic facilities.
Global Applications of Optical Genome Mapping
With these improvements, optical mapping is gaining adoption for a growing number of applications worldwide:
Reference genome projects: Institutions sequencing new model organism and human genomes are routinely utilizing optical mapping to scaffold draft assemblies and validate structural variations.
Clinical diagnostics: Several clinical diagnostic labs now offer optical mapping to solve complex hereditary disease cases. It can identify disease-causing variants where other tests have failed.
Cancer research: Many cancer genome centers are incorporating optical mapping into their studies of tumor genomes to unravel complex rearrangements involved in oncogenesis.
Microbial typing: Public health and research labs use optical mapping to type pathogenic bacteria and fungi for outbreak tracking and investigations.
Conservation genomics: Zoos and wildlife institutes deploy optical mapping to study chromosomal variation in endangered species, assisting breeding and management efforts.
Agricultural applications: Seed companies and plant research groups use optical mapping in projects involving plant genome structure, evolution and trait mapping.
Thus optical genome mapping is transitioning from a niche research tool to a mainstream genomic technology with diverse applications globally. Its unique capabilities for visualizing complex genomic architecture at an unprecedented scale promise many discoveries across biology and medicine in the coming years.
*Note:
1. Source: Coherent Market Insights, Public sources, Desk research.
2. We have leveraged AI tools to mine information and compile it.
