Optical Genome Mapping

Optical Genome Mapping Services

Optical Genome Mapping (OGM) is an innovative genomic analysis technique that provides high-resolution imaging of the entire genome structure. Using advanced technology, our whole genome mapping service enables precise identification of structural variants (SVs), which are critical in understanding complex diseases and advancing therapeutic development. At Source BioScience, we leverage Bionano Saphyr to deliver unparalleled genome-wide insights into the human genome.

Talk to us about your requirements today. We are here to help you reach your research goals quickly and efficiently.

Technique Overview

OGM at Source Genomics employs a multidisciplinary approach that maps restriction enzyme sites on single DNA molecules to generate high-resolution genome reconstructions. This powerful method includes the following steps:

  • 1 Isolation of ultra-high molecular weight (UHMW) DNA from various sample types, ensuring optimal data quality.
  • 2 Fluorescent labeling of specific DNA sequences, marking unique genomic regions for further analysis.
  • 3 Loading of labeled DNA into nanochannels on a specialised chip, allowing only single DNA strands to pass through.
  • 4 Imaging of long DNA molecules with a high-resolution camera, capturing intricate details at the single-molecule level.
  • 5 Conversion of images into digital patterns, generating comprehensive and unique maps of the genomic DNA.
  • 6 Assembly of genome maps using advanced software, creating a complete picture of genomic structure and variations.

This process enables the detection of SVs as small as 500 base pairs, including copy number variations and insertions/deletions, which are often undetectable by conventional sequencing technologies.

Applications and Advantages

OGM offers several advantages over traditional genomic analysis methods:

Detection of Structural Variants

OGM is capable of identifying genome-wide SVs across single molecules of DNA, providing an in-depth look at structural variations that may impact gene function and contribute to disease.

De Novo Genome Assembly

By analysing ultralong DNA molecules, OGM generates de novo genome assemblies, delivering high-resolution imaging without the need for a reference genome. This approach minimizes biases and reveals rare or complex SVs often missed by short-read sequencing.

Enhanced Resolution

Traditional cytogenetic techniques detect chromosomal changes larger than 3-10 Mbp, whereas OGM can detect SVs as small as 30 Kbp, significantly improving diagnostic accuracy for diseases linked to SVs.

Complementary to Next-Generation Sequencing (NGS)

While NGS provides detailed insights at the nucleotide level, OGM reveals larger structural changes, making the two technologies ideal complements. This dual approach offers a full spectrum view of the genome, supporting comprehensive research and diagnostic efforts.

Clinical and Research Applications

OGM is valuable in various clinical and research contexts, such as:

Disease Diagnosis and Prognosis

Particularly effective for diseases characterized by SVs, OGM aids in understanding genetic underpinnings and supports the development of targeted therapies.

Prenatal and Postnatal Diagnostics

OGMโ€™s genome-wide resolution enables accurate detection of potentially pathogenic SVs early in development, assisting with early intervention strategies.

Complex Structural Variant Characterisation

Ideal for investigating SVs linked to complex diseases, OGM can identify large-scale rearrangements and other genome alterations that are often challenging for other technologies to detect.

Pathogen Genomics

OGM is also used in pathogen research to explore genomic variations that impact pathogenicity, supporting the development of targeted interventions..

Source Genomicsโ€™s optical genome mapping service brings cutting-edge technology to researchers aiming to advance their understanding of genomic structure. Whether for academic research or clinical diagnostics, our OGM solutions deliver high-resolution insights into the genome, enabling a new dimension of discovery.

Contact us today and one of our skilled account managers will be in touch with a free consultation including further information and pricing details.