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

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 […]

April 29, 2013. Press release: US National Cancer Institute acquires Shannon Human Splicing Pipeline

OGI’s Early Stage Investment in Cytognomix Contributes to the Success of the Shannon Human Splicing Pipeline ssi payday advance (Also at TORONTO, ON, April 29, 2013 – Ontario Genomics Institute (OGI) congratulates Cytognomix on the success of the Shannon Human Splicing Pipeline, which was recently purchased by the National Cancer Institute (NCI) in the U.S. […]

Forthcoming presentations by Pete Rogan in Milan, Italy

IFOM-IEO. May 10, 02:00 PM “Discovery and predicted consequences of non-coding sequence variants affecting gene expression on a genome-scale and in inherited breast cancer.” ( The IFOM-IEO Campus is a new biomedical research centre, created by the joint efforts of the FIRC Institute of Molecular Oncology Foundation (IFOM) and the Department of Experimental Oncology of the European Institute […]

April 24, 2013. Webinar Presentation cosponsored by the Ontario Genomics Institute

Ben Shirley, Chief Software Architect of the Shannon pipeline for human mRNA splicing mutation analysis presented a webinar today including a live demonstration of the software’s capabilities. We received a number of favorable comments on this LinkedIn Network Discussion. loan marylandpayday loans in jackson msCommonwealth Personal Loan The presentation was recorded and will be […]

Invitation to April 24th Webinar: Genome-scale mRNA Splicing Mutation analysis

The Ontario Genomics Institute (OGI) and Cytognomix Inc. are hosting a 30 minute webinar about the Shannon Human Splicing Pipeline – software for genome-scale splicing mutation analysis on April 24th at 1 PM EST.  We require all attendees to register for the webinar on April 24, 2013 at 1:00 PM (EST) at the OGI website: […]

April 4. Presentation at the Joint Conference of 2013 HGM & 21st International Congress of Genetics

Cytognomix is presenting the following paper  at the Joint HGM 2013 and 21st International Congress of Genetics meeting in Singapore  in the April 15 poster session (9:30-10 AM, 12:30-1:30 PM) on Cancer Genetics and Genomics (T05): STRATEGY FOR IDENTIFICATION, PREDICTION, AND PRIORITIZATION OF NON-CODING VARIANTS OF UNCERTAIN SIGNIFICANCE IN HERITABLE BREAST CANCER. title loans florida […]

March 26, 2013. New article published on chromosome centromere structure and composition.

Khan W.A., Chisholm R., Tadayyon S., Subasinghe A., Norton P., Samarabandu J., Johnston L.J., Knoll J.H., Rogan P.K. Relating Centromeric Topography in Fixed Human Chromosomes to α-Satellite DNA and CENP-B Distribution. Cytogenetics and Genome Research, 2013 (DOI: 10.1159/000348744). instant loan direct lender Abstract Despite extensive analyses on the centromere and its associated proteins, detailed studies […]

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