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

Latest Posts

February 8, 2013. Trialing the Shannon Pipeline for mRNA Splicing Mutation Analysis.

Experience the superior sensitivity and speed of the pipeline for yourself. After downloading the free client, you can connect to a trial version of Cytognomix’s commercial plugin installed on the CLC Bio Genomics Server on our DAIR cloud account.  There, you may work with the results of our genome-wide analysis of three different cancer cell […]

February 3, 2013. New paper accepted for publication in IEEE Transactions in Biomedical Engineering

“Intensity Integrated Laplacian Based Thickness Measurement for Detecting Human Metaphase Chromosome Centromere Location” by Akila Subasinghe Arachchige, Jagath Samarabandu, Joan Knoll and Peter Rogan will be published in IEEE Transactions in Biomedical Engineering. guaranteed loans no credit check Abstract—Accurate detection of the human metaphase chromosome centromere is an important step in many chromosome analysis and medical […]

February 1, 2013. Notice of Allowance on new US Patent on human genomic hybridization

US Patent Application Serial No. 13/469,531 has had all claims allowed by the USPTO. no crdit check loans This application, AB INITIO GENERATION OF SINGLE COPY GENOMIC PROBES, covers the method and applications of single copy probes containing at least one divergent repetitive element.  Examples of probes are described in our new publication:   “Expanding probe […]

January 28, 2013. Platform presentation on Automated Dicentric Chromosome Identifier Software

“Automating Dicentric Chromosome Detection from Cytogenetic Biodosimetry Data” at  the International EPRBioDose 2013 Conference in Leiden, Netherlands (March 24-28). Authors: Peter Rogan(1,2), Akila Subasinghe(1), Asanka Wickramasinghe(1), Yanxin Li(1), Jagath Samarabandu(1), Joan Knoll(1,2), Ruth Wilkins(3), Farah Flegal(4); (1)University of Western Ontario, (2)Cytognomix Inc., (3)Health Canada, (4)Atomic Energy of Canada Ltd., Canada. Abstract:  We are developing a […]

January 21, 2013. Paper about Shannon pipeline accepted for publication in Genomics, Proteomics, and Bioinformatics.

Interpretation, stratification and validation of sequence variants affecting mRNA splicing in complete human genome sequences. Genomics, Proteomics, and Bioinformatics, 11:77-85, 2013. Ben C. Shirley, Eliseos J. Mucaki, Tyson Whitehead, Paul I. Costea, Pelin Akan, Peter K. Rogan. Information theory-based methods have been shown to be sensitive and specific for predicting and quantifying the effects of non-coding […]

January 11, 2013. New paper accepted for publication in Nucleic Acids Research

“Expanding probe repertoire and improving reproducibility in human genomic hybridization” by S. Dorman, B. Shirley, J. Knoll, and P. Rogan has been accepted for publication by the journal Nucleic Acids Research. In this paper, we use Cytognomix’s patented ab initio sc probe technology to develop and validate a novel classes of FISH probes, genomic microarrays […]

January 4, 2013. Paper: “Predicting mRNA transcript isoforms derived from splicing mutations”, ASSEDA server

guaranteed lendingfast cash online payday loans “Prediction of mutant mRNA splice isoforms by information theory-based exon definition,” by Eliseos Mucaki, Ben Shirley and Peter Rogan has been accepted for publication by the journal Human Mutation. Abstract.  Mutations that affect mRNA splicing often produce multiple mRNA isoforms, resulting in complex molecular phenotypes. Definition of an exon […]