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.

MutationForecaster® combines 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 .

You can now experience our integrated suite of genome interpretation products through a free trial of MutationForecaster®. Once you register, analyze datasets that we have analyzed in our peer-reviewed publications with any of our software tools.

Ionizing radiation produces characteristic chromosome changes. The altered chromosomes contain two central constrictions, termed centromeres, instead of one (known as dicentric chromosomes [DCs]). Chromosome biodosimetry is approved by the IAEA for occupational radiation exposure, radiation emergencies, or monitoring long term exposures.  In emergency responses to a range of doses, labs need efficient methods that identify DCs.

Cytognomix has developed  a novel approach to find DCs that is independent of chromosome length, shape and structure from different laboratories (paper: 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 based algorithms with high sensitivity and specificity that 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 all types of commercial metaphase scanning systems,  selects high quality cells for analysis, identifies dicentric chromosomes (removing false positives), 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 that others cannot with advanced,  patented genomic  probe and bioinformatic technologies. Cytognomix continues our  long track record of creating technologies for genomic medicine. We anticipate and implement the needs of the biomedical and clinical genomics communities.

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Latest Posts

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 […]

November 7, 2012. Presentation at 2012 meeting of the American Society of Human Genetics.

Strategy for Identification, Prediction, and Prioritization of Non-Coding Variants of Uncertain Significance in Heritable Breast Cancer P. K. Rogan1,2,4, E. J. Mucaki1, A. Stuart3, N. Bryans2, E. Dovigi1, B. C. Shirley2, C. Viner2, J. H. Knoll3,4, P. Ainsworth4. Departments of Biochemistry1, Computer Science2, and Pathology3 Western University, and Cytognomix Inc4,  London, ON N6A 2C1 Canada. […]

October 17, 2012. Automating cytogenetic biodosimetry

Cytognomix has established  partnerships to develop advanced high throughput software and microscope systems to automate cytogenetic biodosimetry in the event of a mass casualty radiation event. Biodosimetry laboratory partners include Health Canada and Atomic Energy of Canada Ltd. Software development for image processing of chromosome images is being carried out at the Schools of Engineering […]