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Optical genome mapping (OGM) with Bionano genome mapping systems can identify all classes of structural variation by observing changes in label spacing and comparisons of order, position, and orientation of label patterns. Tab through the image carousel below to see how each type of SV is visualized with OGM.


Structural variations (SVs), including chromosomal aberrations, are changes to the structure or number of chromosomes. Chromosomes are long DNA molecules containing the genetic material of living organisms. There can be extra or missing chromosomes or chromosomes that have different types of rearrangements, resulting in gains and losses of DNA, copy number changes, and balanced shifts in position. Any of these SVs can disrupt the normal function of a gene and contribute to the development of a broad range of genetic diseases and cancer. Unlike single nucleotide variants (SNVs) or small deletions and duplications (indels), SVs can range in size from a few hundred base pairs to thousands or millions of base pairs of DNA. Traditionally, SVs have been identified by karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA).


The key applications include:

-The QC of engineered cells

-Haem onc and solid tumour

-Constitutional & rare diseases


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STEMCELL Technologies

Driven by science and a passion for quality, STEMCELL Technologies offers over 2,500 tools and services to support discoveries in fields such as regenerative medicine, immunotherapy, and disease research. Whether you're culturing or editing hematopoietic stem and progenitor cells, differentiating pluripotent stem cells, or activating and expanding immune cells, we have specialized cell isolation products, high-performance cell culture media, and accessory tools for your research. By increasing the accessibility of innovative techniques like gene editing and organoid cultures, we’re helping scientists accelerate the pace of discovery. 

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 Our Somascan technology uses an innovative, high-throughput, aptamer-based assay to measure over 7,000 proteins simultaneously in biofluids. The technology benefits from exceptional, demonstrated specificity and the lowest variability available, enabling users to run fewer samples for statistical significance and still consistently detect thousands of proteins. Moreover, thanks to the surrogate endpoints we have developed, you can characterise benefits and safety without waiting for outcomes.

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Thermo Fisher Scientific

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