Pan-Cancer Splicing Web Beacon to be Presented at ACMG Meeting

We’re giving a demonstration and a poster presentation of our new GA4GH-compliant web-based Beacon (https://validsplicemut.cytognomix.com) at the 2019 American College of Medical Genetics and Genomics annual conference this week.
Here are the details:

Pan-Cancer Repository of Validated Natural and Cryptic mRNA Splicing MutationsCategory: “Laboratory genetics and genomics”, Abstract Poster Number:  754 (link to abstract)

Where: Exhibit hall,  Washington Convention Center, ACMG Clinical Genetics Meeting in Seattle, Washington

When: April 2 – 6, 2019; Poster presentation time:  Friday, 4/5 from 10:30am-12:00pm

An e-poster is available on the CytoGnomix website (direct link to poster). The work has been published in F1000Research (link).

If you’d like to meet with Dr. Rogan, please contact him at info@cytognomix.com

This Beacon resource was created using the MutationForecaster system.

March 20, 2019. Presentation at the 2019 American College of Medical Genetics and Genomics annual conference

The following  paper has been accepted for presentation:

 “Pan-Cancer Repository of Validated Natural and Cryptic mRNA Splicing Mutations”, 

Category: “Laboratory genetics and genomics”, Abstract Poster Number: 754     (link to Abstract)

Where: Exhibit hall, Washington Convention Center, ACMG Clinical Genetics Meeting in Seattle, Washington

When: April 2 – 6, 2019;  Poster presentation time: Friday, 4/5 from 10:30am-12:00pm

This work will be available as an ePoster AS WELL AS being presented in printed format on a poster board during the Annual Meeting.  Details to access the ePoster will be available soon.

 

 

 

 

July 30 2014. Invited presentation at Next Generation Sequencing conference

Peter Rogan, President of Cytognomix has been invited by Oxford Global to present at the 6th Annual Next Generation Sequencing Congress at the Queen Elizabeth II Conference Center in London, UK on Nov. 21, 2014. The oral presentation is titled: “Impact Of Non-coding Mutation Analysis In Hereditary and Somatic Breast Cancer.” In the talk, Dr. Rogan will showcase results of the use of Cytognomix’s software and genomic reagents to obtain new insights into the genomic abnormalities present in breast cancer.

Mutation Forecaster®

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 Cyto Visualization 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 throughfree trial of MutationForecaster®. Once you register, analyze datasets that we have analyzed in our peer-reviewed publications with any of our software tools.

Don’t want to run your own analyses? Let us do it for you with our Bespoke Analysis Service.

mutforecast

mutationforecaster.com

 

 

 

 

 

Resources

Links to the latest CytoGnomix products:

ValidSpliceMut: A GA4GH-compliant beacon of validated splicing mutations

Article in F1000Research: Pan-Cancer repository of …..

Presentation at the 2019 American College of Medical Genetics Annual Meeting:

Pan-cancer repository of validated natural and cryptic mRNA.ePoster

Interactive Website: Gene signatures for chemotherapy drug response

Demo (Windows): Automated Dicentric Chromosome Identifier and Dose Estimator  

Review on information theory-based splicing mutation analysis:

Caminsky et al. 2014, Videos describing this paper: short and long versions.

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