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

Upcoming Invited Presentations

Cytognomix has been invited to present applications of our ab initio sc probe targeted capture array technology and the Shannon software pipeline this fall at several venues in Italy. 18th Congress of the Italian Society of Human Genetics (SIGU) in Rome 25-28 September 2013 (platform) :   IDENTIFICATION, PREDICTION, AND PRIORITIZATION OF NON-CODING VARIANTS OF UNCERTAINSIGNIFICANCE […]

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 http://www.eurekalert.org/pub_releases/2013-04/ogi-oii042913.php) 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.” (http://www.semm.it/seminars.php) 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. www.1hourpaydayloansnow.commidtownpass.com/www/payday 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:  https://ogi.factorial.ca/Forms/fm_forms.jsp?token=HwkGRx0GZl5aSxdR […]