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

June 30, 2017. New publication on breast cancer genetics

Yang et al. Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia. Breast Cancer Research and Treatment, 2017.  (Link to paper  [pdf]) This study applies information theory based mutation analysis to interpret pathogenic variants and variants of uncertain significance in these genes.  

June 3, 2017. Presentation at Variant Detection 2017

Peter Rogan will be presenting “A Unified Framework For Prioritization Of Variants Of Uncertain Significance In Hereditary Breast And Ovarian Cancer” at Variant Detection 2017 in Santiago de Compostela Spain on June 5, 2017. Coauthors are Eliseos Mucaki1, Natasha Caminsky1, Ruipeng Lu1, Joan Knoll1,2 and Peter Rogan1,2. 1University of Western Ontario, 2CytoGnomix Inc. Abstract: Purpose: […]

June 1, 2017. Products delivered under the Build in Canada Innovation Program

CytoGnomix has delivered the Automated Dicentric Chromosome Identifier and Dose Estimator system to the Healthy Environments and Consumer Safety Branch at Health Canada, Government of Canada and to the Biodosimetry laboratory at Canadian Nuclear Laboratories.  Each lab received two licensed versions of the product on a state of the art MSI portable computer  and two full days […]

May 22, 2017. Protocol on automated radiation biodosimetry accepted for publication

Our article: “Expedited radiation biodosimetry by automated dicentric chromosome identification and dose estimation” Ben Shirley 1^ , Yanxin Li 1^ , Joan H. M. Knoll 1,2 , and Peter K. Rogan 1,3 1 CytoGnomix, Departments of 2 Pathology and Laboratory Medicine and 3 Biochemistry, Western University, London, ON Canada has been accepted for publication in […]

May 4, 2017. CytoGnomix introducing new biodosimetry product

  CytoGnomix will be exhibiting at the 22nd Nuclear Medical Defense Conference, next week (May 8th to 11th 2017) in Munich, Germany. We will be introducing our biodosimetry product, the Automated Dicentric Chromosome Identifier and Dose Estimator (ADCI) at the meeting. We will also be presenting a poster on novel, patent pending methods to automatically […]

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