Genome-Scale Variant Interpretation
Automated Radiation Dose Estimation
Mission Statement
MutationForecaster® (mutationforecaster.com) is Cytognomix’s patented web-portal for analysis of all types of mutations – coding and non-coding- including interpretation, comparison and management of genetic variant data. It’s a fully automated genome interpretation solution for research, translational and clinical labs.
Run our world-leading genome interpretation software on your exome, gene panel, or complete genome (Shannon transcription factor and splicing pipelines, ASSEDA, Veridical) with the Cytognomix User Variation Database and Variant Effect Predictor. With our integrated suite of software products, analyze coding, non-coding, and copy number variants, and compare new results with existing or your own database. Select predicted mutations by phenotype using articles with CytoVisualization Analytics. With Workflows, automatically perform end-to-end analysis with all of our software products. Download an 1 page overview of MutationForecaster® (link)
Subscribe and analyze your own data via the cloud or… Don’t want to run your own analyses on MutationForecaster®? Let us do it for you with our Bespoke Analysis Service.
Experience our suite of genome interpretation products through a free trial of MutationForecaster®. Once you register, we provide datasets from our peer-reviewed publications to evaluate these software tools.
Automated radiation biodosimetry
Ionizing radiation produces characteristic chromosome changes. The altered chromosomes are known as dicentric chromosomes [DCs]). DC biodosimetry is approved by the IAEA for occupational radiation exposure, radiation emergencies, or monitoring long term exposures. The DC assay can also monitor effects of interventional radiation therapies.
Cytognomix has developed a novel approach to find DCs (TBME). The Automated Dicentric Chromosome Identifier and Dose Estimator (ADCI) software works on multiple platforms and uses images produced by any of the existing automated metaphase capture systems found in most cytogenetic laboratories. ADCI is now available for for trial or purchase (link). Or contact us for details (pricing).
ADCI* uses machine learning to distinguish monocentric and dicentric chromosomes (Try the Dicentric Chromosome Identifier web app). With novel image segmentation, ADCI has become a fully functional cytogenetic biodosimetry system. ADCI takes images from metaphase scanning systems, selects high quality cells, identifies dicentric chromosomes, builds biodosimetry calibration curves, and estimates exposures. ADCI fulfills the criteria established by the IAEA for accurate triage biodosimetry of a sample in less than an hour. The accuracy is comparable to an experienced cytogeneticist. Check out our online user manual: wiki.
We find and validate mutations and gene signatures that others cannot with advanced, patented genomic bioinformatic technologies. Cytognomix continues our long track record of creating technologies for genomic medicine. We anticipate and implement the needs of the molecular medicine and genomics communities.
Predict chemotherapy outcomes
Pharmacogenomic responses to chemotherapy drugs can be predicted by supervised machine learning of expression and copy number of relevant gene combinations. Since 2015, CytoGnomix has used biochemical evidence to derive gene signatures from changes in gene expression in cell lines, which can subsequently be examined in patients that have been treated with the same drugs. We have derived signatures for 30 different commonly used drugs. Try out out our online predictor: https://chemotherapy.cytognomix.com.
Quantifying responses to ionizing radiation with gene expression signatures.
Gene signatures derived by machine learning have low error rates in externally validated, independent radiation exposed data. They exhibit high specificity and granularity for dose estimation in humans and mice. These signatures can be designed to avoid the effects of confounding, comorbidities which can reduce specificity for detecting radiation exposures. See: https://f1000research.com/articles/7-233/v2
Single copy genomic technologies
- Customized genomic microarrays
- Ultrahigh resolution FISH probes (article):
- Microarray-based comparative genomic hybridization (aCGH) can use SC technology to increase reproducibility and reduce cost per sample.
Latest Posts
September 3, 2014. Technical presentation to US Patent and Trademark Office
Peter Rogan gave an invited presentation titled: “Interpreting pathogenic human genome variation: methods, applications and implications,” at the Patent Examiner Technical Training Program at the US Patent and Trademark Office. The presentation was webcasted to all USPTO offices across the United States. The program is focused on providing technical training to Patent Examiners, in this case to the Patent […]
August 13, 2014. New Patent Application published
US Pat. App. No. 13/744459 has been published by the US Patent and Trademark Office. The invention is entitled: Stable gene targets in breast cancer and use thereof for optimizing therapy. Inventors Peter Keith Rogan, Joan Helen Knoll
July 30 2014. Invited presentation at Next Generation Sequencing conference
Peter Rogan, President of Cytognomix has been invited by Oxford Global to present at the 6th Annual Next Generation Sequencing Congress at the Queen Elizabeth II Conference Center in London, UK on Nov. 21, 2014. The oral presentation is titled: “Impact Of Non-coding Mutation Analysis In Hereditary and Somatic Breast Cancer.” In the talk, Dr. […]
July 23, 2014. New US patent application published on exon definition mutation analysis
US Pat. Application No. 14/154,905 describes our method of predicting cryptic and exon skipping isoforms in mRNA produced by splicing mutations from the combined information contents and the distribution of the splice sites and other regulatory binding sites defining these exons. Results obtained are highly concordant with result of expression studies. A paper has been published […]
July 13, 2014. Presentations at the 2014 American Society of Human Genetics Conference
Cytognomix will be presenting several papers at the upcoming ASHG annual meeting (October 18-22, 2014, San Diego): Using information theory to analyze and predict splicing mutations in rare and common diseases: performance and best practices. N.G. Caminsky, E. Mucaki and P.K. Rogan Reversing differences in chromatin accessibility that distinguish homologous mitotic metaphase chromosomes. W.A. Khan, P.K. Rogan, […]
June 12, 2014. New product announcement
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. Stay tuned for more developments about this […]
May 23, 2014. A Comment about Variant Databases
Variant databases are an essential resource for both clinical and research genomics. Has the variant been reported previously in a patient and if so, what was their phenotype? They are used to exclude benign or common variants as pathogenetic, based on their high frequency in asymptomatic individuals. Many researchers curate variant databases of specific loci, […]
May 19, 2014. Veridical wins best paper award at two conferences!
Coby Viner presented our F1000 paper on the Veridical algorithm and software at the 2014 Compute Ontario 1st Annual Research Conference (Waterloo, Ontario, May 7) and at the 9th Annual Great Lakes Bioinformatics Conference (Cincinnati, Ohio, May 17). At these conferences, he received the Best Oral Presentation and Best Highlights Presentation award, respectively. This is […]
