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

October 19, 2018. Presentations at the 7th Northeast Regional Chromosome Pairing Conference

CytoGnomix and the University of Western Ontario presented several papers about differential accessibility of single copy FISH probes to metaphase chromosomes at the Chromosome Pairing conference, held at Laurentian University, Sudbury, Ontario, Canada. We are grateful to Prof. Thomas Merritt for inviting us to participate in this exciting conference. The following talks were presented: Seana […]

Aug. 13, 2018. Differential accessibility to homologous chromosomal loci confirmed by international consortium

A large international consortium based at Harvard University has demonstrated parental homolog-specific differences in chromatin accessibility on human chromosome 19: Nir et al. BioRxiv  doi: 10.1101/374058 (Walking along chromosomes with super-resolution imaging, contact maps, and integrative modeling) This work reproduces previous reports previously published  by CytoGnomix scientists using our patented scFISH™ probes: Khan et al. Molecular […]

June 13, 2018. Article in Fast Forward

The 2018 Impact report from the  Southern Ontario Smart Computing for Innovation Platform (SOSCIP), which supports the development of a supercomputer version of the Automated Dicentric Chromosome and Dose Estimation (ADCI) system in IBM Blue Gene/Q, contains an article about our project:                             […]

June 7, 2018. Presentations at upcoming international conferences

        Population scale biodosimetry with the Automated Dicentric Chromosome Identifier and Dose Estimator (ADCI) software system. (Platform) Rogan PK, Ali, S, Li Y, Shirley B, Wilkins R, Flegal F, Cooke R, Peerlaproulx T, Waller E, Knoll JHM. EPR Biodose 2018, June 11-15, Munich Germany Optimization of image selection in Automated Dicentric Chromosome Analysis. […]

May 29, 2018. Change to cytognomix.org URL

As of today, we have transitioned the website cytognomix.org to: http://academic.cytognomix.com The site contains our published articles, lectures and presentations about human genetics and molecular biology. All of the legacy content at this site (1980-2007) will be  preserved on the new site. Please update your browser bookmarks to reflect this change.

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