Browsing articles tagged with " mutation interpretation"

March 17, 2015. Review article on mRNA splicing mutations highlighted on F1000Research blog

Mar 18, 2015   //   by Peter Rogan   //   product, Software  //  Comments Off

Revised version of our review article on mRNA splicing in F1000Research has been highlighted in the Faculty of 1000 blog:

http://blog.f1000research.com/2015/03/17/interpreting-genomic-variants-in-rare-and-common-diseases/

The blog entry includes links to our YouTube video:

Short version (3:42)

Long version (9:41)

Mutation Forecaster®

Jun 12, 2014   //   by Peter Rogan   //    //  Comments Off

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 now accessible via Illumina’s BaseSpace ecosystem!

Download an 1 page overview describing MutationForecaster®: link

MutationForecaster® combines our world-leading genome interpretation software with the Cytognomix User Variation Database and EBI’s 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 PubMed-indexed articles with Cyto Visualization Analytics.  With Workflows,  automatically perform end-to-end analysis with all of our software products on your exome, gene panel, or complete genome dataset. It’s an end-to-end genome interpretation solution for research, translational and clinical labs.   

You can now experience our integrated suite of genome interpretation products throughfree trial of MutationForecaster®. Once you register, analyze datasets that we have analyzed in our peer-reviewed publications with any of our software tools.

mutforecast

mutationforecaster.com