Inventing advanced reagents and software for genomic analysis
from patented genome bioinformatic technologies:
Shannon pipeline software for high throughput interpretation of genomic variation:
- High accuracy prediction of functional non-coding variants.
- Genome-scale performance; hones in on a small number of variants.
- Proven approach based on information theory.
- Rapid results (10 minutes/genome).
- Now Available Online!
Veridical software for RNASeq-based validation of predicted mutations:
- First product on the market to validate mutations with NGS data
- Statistical approach to confirm predictions from the Shannon pipeline
- Validates thousands of predictions in a few hours
- Peer-reviewed; see testimonials
Single Copy (sc) technology: genomic hybridization products for genetic disease management:
- Targeted solution capture pools for hybridization enrichment. Highest coverage of entire genes and flanking regions for deep sequencing.
- Fluorescent in-situ hybridization (scFISH) probes from our catalog or custom synthesized. Highest resolution available. The only probes detecting epigenetic differences between metaphase chromosome pairs.
- Low noise, genomic microarray designs that increase reproducibility and reduce cost.
- Patented image analysis algorithms and software to automatically detect chromosome abnormalities.
- Cytogenetic abnormalities are detected regardless of chromosome appearance, shape or structure.
- ADCI software for detecting dicentric chromosomes in blood, which are diagnostic for ionizing radiation exposures.
- NIH funded
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Genome-scale interpretation of mutations with the Shannon pipeline.
Online subscriptions available.
Annual subscriptions to the Automated Splice Site and Exon Definition Server
- 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
Array CGH is commonly used to identify chromosome abnormalities by
genome-wide assessment of copy number. Cytognomix has:
- 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