Inventing advanced reagents and software for genomic analysis
from patented genome bioinformatic technologies:
Shannon pipeline software is used for high throughput interpretation of genomic variation:
- High accuracy prediction of functional non-coding variants. Currently available for splicing mutations. In the future, transcription factor binding site variants and mutations in untranslated regions.
- Genome scale performance, but hones in on a small number of functionally significant variants.
- Proven approach based on information theory.
- Rapid results (10 minutes/genome).
- For use with CLC bio’s user-friendly Genomics Workbench and Server platforms
Single Copy (sc) technology: precise, sensitive, and informative genomic hybridization tools for genetic disease management.
- Fluorescent in-situ hybridization (scFISH) probes from our catalog or custom synthesized. scFISH probes offer the highest resolution available on the market. The only probes available that can detect epigenetic differences between metaphase chromosome pairs.
- Low noise, genomic microarray designs for comparative genomic hybridization. Our genomic microarrays use sc technology to increase reproducibility and reduce cost per sample.
- Targeted solution capture arrays for hybridization enrichment with increased coverage of entire genes and flanking regions for deep sequencing. Our solution capture arrays offer the highest genomic coverage available on the market for next generation sequencing.
Imaging chromosome abnormalities: Cytognomix has developed proprietary image analysis algorithms and software to automatically detect chromosome abnormalities found by light and fluorescence microscopy. Cytogenetic abnormalities are detected regardless of their appearance, shape or structure. An example is our software for detecting dicentric chromosomes in blood, which are diagnostic for ionizing radiation exposures. A US Patent will be issued soon covering this technology.
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the Shannon pipeline. Online subscriptions available.
- Highly cited, well validated
- Recommended by the American College of Medical Genetics and Genomics
- Designated as a medical device by the FDA
- The most informative and accurate predictions of mRNA splicing mutations
- Constitutive and splicing regulatory protein binding sites
- Priced competitively
- Reduced noise in genomic microarray data
- More accurate and reproducible results
- Higher quality data for regulatory filings
- Fewer probes required to call copy number genotypes
- Use sectored arrays with lower per sample costs