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

April 4. Presentation at the Joint Conference of 2013 HGM & 21st International Congress of Genetics

Cytognomix is presenting the following paper  at the Joint HGM 2013 and 21st International Congress of Genetics meeting in Singapore  in the April 15 poster session (9:30-10 AM, 12:30-1:30 PM) on Cancer Genetics and Genomics (T05): STRATEGY FOR IDENTIFICATION, PREDICTION, AND PRIORITIZATION OF NON-CODING VARIANTS OF UNCERTAIN SIGNIFICANCE IN HERITABLE BREAST CANCER. title loans florida […]

March 26, 2013. New article published on chromosome centromere structure and composition.

Khan W.A., Chisholm R., Tadayyon S., Subasinghe A., Norton P., Samarabandu J., Johnston L.J., Knoll J.H., Rogan P.K. Relating Centromeric Topography in Fixed Human Chromosomes to α-Satellite DNA and CENP-B Distribution. Cytogenetics and Genome Research, 2013 (DOI: 10.1159/000348744). instant loan direct lender Abstract Despite extensive analyses on the centromere and its associated proteins, detailed studies […]

March 26, 2013. New US Patent issued.

US Pat. No.8,407,013 issued: “Ab initio generation of single copy probes”. amend rules related This patent covers single copy probes that also contain divergent repetitive sequences, which under certain conditions, hybridize like single copy sequences. This expands the human genomic real estate accessible for single copy genomic analysis techniques. Cytognomix has used this approach to […]

March 15, 2013. Paper describing the Shannon pipeline for human mRNA splicing mutation analysis.

Interpretation, Stratification and Evidence for Sequence Variants Affecting mRNA Splicing in Complete Human Genome Sequences. B.C. Shirley, E.J. Mucaki, T. Whitehead, P.I. Costea, P. Akan, P.K. Rogan (2013), Genomics, Proteomics and Bioinformatics. DOI:10.1016/j.gpb.2013.01.008 payday loans credit reporthttp://cajuncreole.com/rvc/Best Lending Companiesthe first place thesePayday Loans Poor Credit (http://www.sciencedirect.com/science/article/pii/S1672022913000296)

March 9, 2013. New Publication on Chromosome Centromere Detection in Metaphase Cell Images

Intensity Integrated Laplacian Based Thickness Measurement for Detecting Human Metaphase Chromosome Centromere Location. Arachchige AS, Samarabandu J, Knoll J, Rogan P. IEEE Trans Biomed Eng. 2013 Feb 20. PMID: 23434602 Abstract Accurate detection of the human metaphase chromosome centromere is an important step in many chromosome analysis and medical diagnosis algorithms. The centromere location can […]

February 26, 2013. Video published by the journal, “Human Mutation”

A companion video has been  to our paper, “Prediction of Mutant mRNA Splice Isoforms by Information Theory-Based Exon Definition,” www.sudburywine.com/app/ DOI: 10.1002/humu.22277,  has been published on the Human Mutation website. They have also published it on their Facebook page and on YouTube:

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 […]