DNA structural analysis for Biomarker Discovery

Expect less, see more

A valuable tool to study large scale genomic anomalies without any prior assumption as to their presence or form

Direct readout of patient DNA

Any type of rearrangement larger than 3 kb is detected in the target region, including exons, introns and flanking regions

No bias introduced during sample preparation

Variants appear at their real frequency, homologous sequences are analyzed without loss of performance

Evaluate rearrangements in selected regions across the genome

Study different type of variants

Copy Number Variations can be easily detectedand put in the context of gene structure

Exogenous Insertions are picked up and annotated through the measurement changes in the Genomic Morse Code

Inversions and Translocations, often invisible to other methods, can be also detected as a Genomic Morse Code anomaly

A complementary approach to accelerate
clinical biomarker discovery

The combination of the Molecular Combing technique and the Genomic Morse Code detection strategy is an attractive solution to study large DNA modifications underlying genetic disease and cancer. Genomic Vision’s approach completes the genomic picture as it offers a resolution between what FISH techniques and sequencing can reveal. The direct read-out of individual molecules of DNA allows complex genetic features of a region to be studied in detail, without prior knowledge of its anomalies.
Hence, the adaptation of the technology in biomarker discovery is a great source of knowledge for the development of diagnostic tests.

Hybridization-based mapping of target genes
on combed DNA molecules

The Molecular Combing procedure results in over 100 copies of a human genome being attached to a glass carrier. Single or multiple genetic markers can be hybridized to the combed DNA, enabling a high-resolution physical mapping over large loci of interest. Structural analysis of the DNA can be carried out on long DNA fibers without compensating resolution, thus subtle changes within a large region can be studied.

Detect known structural variations and discover hitherto undetected variants

We developed a unique language, the Genomic Morse Code (GMC) for the detection of large DNA modifications. The GMC uses the combination of probes of different sizes and colors to create a “Morse Code” specific to a gene or a region of interest. Any change in the pattern compared to the Morse Code of reference indicates the presence of a rearrangement in the target locus. A dedicated software detects and analyzes all signals on a coverslip and “translates” the Genomic Morse Code to valuable information about gene modifications. With this approach, rearrangements of all kinds can be detected: amplification, deletions, repeat arrays, inversions and translocations. Using the GMC strategy, it is possible to cover several megabases to study rearrangements in multiple regions of the genome.

> Read more about the Genomic Morse Code detection strategy

A dedicated platform

To avoid time consuming search for the signals with a fluorescent microscope, the automated system scans the whole surface of the coverslip in only one hour. The detection of different hybridization signals and direct measurements of the GMC pattern is made easy due to our state-of-the-art analysis software solutions.

Learn more about the platform