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

Jan. 13, 2014. New paper and software for experimental evaluation of predicted mutations in genomes or exomes

We have just published a  paper describing method and companion software for experimental validation of mutations with NGS (RNASeq) data: Validation of predicted mRNA splicing mutations using high-throughput transcriptome data. Coby Viner, Stephanie N. Dorman, Ben C. Shirley, Peter K. Rogan. published in F1000Research ( ) This approach fills a critical unmet need in genome-scale […]

Jan. 10, 2014. Presentation at the The Fifth International Symposium on Hereditary Breast and Ovarian Cancer

Our abstract, “Identification, Prediction and Prioritization of Non-Coding Variants of Uncertain Significance in Heritable Breast/Ovarian Cancer,” has been accepted for presentation at the BRCA: Twenty Years of Advances – The Fifth International Symposium on Hereditary Breast and Ovarian Cancer Conference in Montreal, Quebec (Apr 23-25). The authors are: E.J. Mucaki(1), N. Caminsky(1), A. Stuart(1), C. Viner(1), […]

December 10, 2013. Agreement to supply reagents for next generation sequencing

Cytognomix has agreed to provide hybridization enrichment products to the Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine at the Istituto Nazionale dei Tumori (INT), Fondazione IRCCS-Milan for sequencing of genes associated inherited neoplastic disease. The company’s scProbe design technology was selected by the INT because it provides […]

December 10, 2013. New patent on detecting biological exposure to radiation

US Patent 8,605,981, titled “Centromere detector and method for determining radiation exposure from chromosome abnormalities,” has been issued to Peter K.  Rogan, Joan H. Knoll, Jagath Samarabandu, and Akila Subasinghe. The patent is assigned to Cytognomix. The inventors have developed Automated Dicentric Chromosome Identifier (ADCI) software based on this technology. The present version of ADCI […]

January 20, 2013. Canadian Breast Cancer Foundation highlights Early Breast Cancer Detection project based on Cytognomix technology

The Canadian Breast Cancer Foundation has recognized our progress in developing novel next generation DNA sequencing and companion bioinformatic analysis technologies for early detection of breast cancer. See their profile at:  Canadian Breast Cancer Foundation article on Dr. Peter Rogan. Update January 20, 2013. CBCF has published a new  full profile of our project.

December 5, 2013. Breast Cancer Society of Canada Blog profiles our research

Stephanie Dorman published a method that improves the accuracy of a test commonly used in the genetic analysis of many types of cancers (Dorman et. al. Expanding probe repertoire and improving reproducibility in human genomic hybridization, Nucleic Acids Research, 41:e81, 2013). This technology was developed, supported and patented by Cytognomix. See:    The Breast Cancer […]

November 28. Presentation at the European Institute of Oncology

Dr. Peter Rogan is presenting at the European Institute of Oncology (IEO) Education Masterclass on 28 Nov in Milan, Italy. His talk is titled “Overview of bioinformatics tools for identification of new determinants of cancer risk.” sondraimcash advance loans no credit check no faxingloans to payday Brochure describing: Course at IEO 28_29 nov 2013 on inherited […]