Genome-Scale Variant Interpretation

Automated Radiation Dose Estimation

Mission Statement

MutationForecaster® ( 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: 

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:

Single copy genomic technologies

Latest Posts

September 19. Abstract on metaphase epigenetics: platform presentation at American Society of Human Genetics meeting

Non-random, locus-specific differences in DNA accessibility are present in homologous metaphase chromosomes. W. A. Khan1,3, P. K. Rogan2,3,4, J. H. M. Knoll1,3,4 1) Department of Pathology; 2) Departments of Biochemistry and Computer Science; 3) University of Western Ontario, London, Ontario, Canada; 4) Cytognomix, London, Ontario, Canada. / pay day installment loanspayday loans without a checking […]

September 16, 2013. US patent to be awarded on breakthrough radiation biodosimetry technology

Cytognomix has received a Notice of Allowance from the US Patent and Trademark office for our patent application, “Centromere Detector and Method for Determining Radiation Exposure From Chromosome Abnormalities.”  All claims that were applied for were allowed in the soon to be issued patent. The application is available at this link: US Patent Application Ser. No […]

September 6, 2013. Shannon pipeline highlighted at meeting on Clinical Applications of Next Generation Sequencing

Cytognomix’s Shannon pipeline has been highlighted in a report published describing the 2013 annual scientific meeting of the Human Genome Variation Society (HGVS) in Paris, France. The paper’s authors, Sian Ellard,George P. Patrinos, and William S. Oetting, write: “Although NGS can identify numerous sequence variants, a major problem is predicting the functional consequence of mutations […]

August 13, 2013. Paper accepted on evaluation of mutation prediction methods

Letter to the editor: “Best practices for evaluating mutation prediction methods” Available online: Human Mutation, in press. Peter K. Rogan(1,2) and GuangYong Zou(3) (1) Biochemistry, (2) Computer Science, (3) Epidemiology and Biostatistics Schulich School of Medicine and Dentistry, Western University, London ON [available upon request. Contact:] loans for credit scores under 500      

July 31, 2013. Paper accepted for oral presentation at the 63rd American Society of Human Genetics annual meeting

Session 27: Causes and Consequences of Chromosomal Variations. Title: Non-random, locus-specific differences in DNA accessibility are present in homologous metaphase chromosomes. Authors: Wahab Khan, Peter Rogan, and Joan Knoll. Thursday, October 24, 10 AM. Boston Convention & Exhibition Center, Grand Ballroom CDE, Concourse Level bad credit loans guaranteed approvalcashback rewardssecure cash loans online This study examines locus […]

Upcoming Invited Presentations

Cytognomix has been invited to present applications of our ab initio sc probe targeted capture array technology and the Shannon software pipeline this fall at several venues in Italy. 18th Congress of the Italian Society of Human Genetics (SIGU) in Rome 25-28 September 2013 (platform) :   IDENTIFICATION, PREDICTION, AND PRIORITIZATION OF NON-CODING VARIANTS OF UNCERTAINSIGNIFICANCE […]

May 22, 2013. Shannon mRNA splicing mutation pipeline version 1.0.5

We have released a new version (1.0.5)  of the Shannon splicing mutation pipeline. The new version now processes large sets of variants (ie. from multiple complete genomes) more quickly, and now includes the ability to import variants using CLC bio’s variant track format (in addition to VCF). Documentation has been significantly improved and several sets of example […]

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