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.
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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:
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
OGMโs 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 Genomicsโs 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.