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.
Browse the products section of the menu found in the header bar for more information regarding any of our services.
- Don’t want to run your own analyses on MutationForecaster®? Let us do it for you with our Bespoke Analysis Service.
- Customized genomic microarrays
- Ultrahigh resolution FISH probes:
- Microarray-based comparative genomic hybridization (aCGH) can use SC technology to increase reproducibility and reduce cost per sample.
December 14. New paper published about regulation of gene transcription by information theory and machine learning
Lu R and Rogan PK. Transcription factor binding site clusters identify target genes with similar tissue-wide expression and buffer against mutations [version 1 ]. F1000Research 2018, 7:1933 (DOI: 10.12688/f1000research.17363.1): https://f1000research.com/articles/7-1933/v1
Shirley BC, Mucaki EJ and Rogan PK. Pan-cancer repository of validated natural and cryptic mRNA splicing mutations [version 1; referees: awaiting peer review]. F1000Research 2018, 7:1908 (https://doi.org/10.12688/f1000research.17204.1 Website to perform database search: https://validsplicemut.cytognomix.com/
RADIATION DOSE ESTIMATION BY COMPLETELY AUTOMATED INTERPRETATION OF THE DICENTRIC CHROMOSOME ASSAY Li, Yanxin; Shirley, Ben; Wilkins, Ruth; Norton, Farrah; Knoll, Joan; Rogan,Peter Radiation Protection Dosimetry, in press Figure 2 (from the article): Representative heat maps of chromosome object count distributions for Health Canada calibration (HC ##Gy.csv) […]
November 20, 2018. New preprint about splicing mutation beacon repository recognized as top genomics study
Mucaki EJ, Zhao J, Lizotte D, Rogan PK. Predicting response to platin chemotherapy agents with biochemically-inspired machine learning. Signal Transduction and Targeted Therapy, in press. A preprint of this article has been released on the BioRxiv server: https://doi.org/10.1101/231712
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 […]
Sept. 11, 2018. New publication about promoter gene variants in BRCA1 and BRCA2 that alter gene expression
In a collaboration with the ENIGMA Consortium members, we have used bioinformatic and functional genomic analysis to identify gene variants that affect the expression of the BRCA1 and BRCA2 genes. The article is: Burke LJ, Sevcik J, Gambino G1, Tudini E, Mucaki EJ, Shirley BC, Whiley P, Parsons M, DeLeeneer K, Gutiérrez-Enríquez S, Pena MS, […]
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 […]