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.

Additional Services

Browse the products section of the menu found in the header bar for more information regarding any of our services.

Latest Posts

Sept. 7, 2019. Pan cancer article and database update

We have published another revision to our pan-cancer splicing mutation database  paper: Shirley BC, Mucaki EJ and Rogan PK. Pan-cancer repository of validated natural and cryptic mRNA splicing mutations F1000Research 2019, 7:1908 (https://f1000research.com/articles/7-1908/v3). The paper is already indexed in PubMed. In this version, we derive a simplified variant classification scheme with  ClinVar designations calibrated to the molecular phenotypes of […]

Aug. 19, 2019. Review article about machine learning for predicting chemotherapy response

New review article in Molecular Genetics and Metabolism about predicting responses to chemotherapy: Multigene signatures of responses to chemotherapy derived by biochemically inspired machine learning Published: https://doi.org/10.1016/j.ymgme.2019.08.005 Abstract:   Pharmacogenomic responses to chemotherapy drugs can be modeled by supervised machine learning of expression and copy number of relevant gene combinations. Such biochemical evidence can form the […]

July 31, 2019. New preprint on biodosimetry in BioRxiv

“Automated Cytogenetic Biodosimetry at Population-Scale” PK Rogan, R Lu, E Mucaki, S Ali, B Shirley, Y Li, R Wilkins, F Norton, O Sevriukova, D Pham, E Ainsbury, J Moquat, R Cooke, T Peerlaproulx, E Waller, JHM Knoll https://www.biorxiv.org/content/10.1101/718973v1 (doi: https://doi.org/10.1101/718973) Introduction The dicentric chromosome (DC) assay accurately quantifies exposure to radiation, however manual and semi-automated assignment of DCs has limited its use for a potential large-scale radiation incident. The Automated Dicentric Chromosome Identifier and Dose Estimator Chromosome (ADCI) software automates unattended DC detection and determines radiation exposures, fulfilling […]

July 4, 2019. Presentations describing interlaboratory comparison of radiation exposure determination by automated cytogenetic biodosimetry

We will be presenting: Determination of radiation exposure levels by fully automated dicentric chromosome analysis: Results from IAEA MEDBIODOSE (CRP E35010) interlaboratory comparison at both the 19th International Congress of Radiation Research (Aug. 25-29, 2019) and the 12th International Symposium on Chromosome Aberrations (Aug. 27, 2019)  in Manchester, UK. This study compared the performance of […]

May 30, 2019. F1000Research splicing mutation database article now indexed in PubMed

Large repository of human mRNA splicing mutations in TCGA and ICGC tumor exomes and genomes, with every mutation validated by transcriptome analysis of tumor vs controls: Shirley BC, Mucaki EJ and Rogan PK. Pan-cancer repository of validated natural and cryptic mRNA splicing mutations. F1000Research 2019, 7:1908      (https://f1000research.com/articles/7-1908/v2)