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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- Reduced noise in genomic microarray data
- More accurate and reproducible results
- Fewer probes required
MutationForecaster™ (http://www.mutationforecaster.com) is Cytognomix’s new web-portal for analysis of all types of mutations, interpretation, comparison and management of genetic variant data. It is an integrated suite of software products where coding, non-coding, copy number variant analyses can be carried out, compared with published or your own databases, maintained or downloaded.
MutationForecaster combines all of our world-leading genome interpretation software with the widely used Leiden Open Variation Database and EBI’s Variant Effect Predictor under one roof. We provide an end-to-end genome interpretation solution to expedite analysis by genomics research, translational and clinical labs.
It will be released Q3, 2014.Read more »