Browsing articles by " Peter Rogan"

July 23, 2014. New US patent application published on exon definition mutation analysis

Jul 23, 2014   //   by Peter Rogan   //   News  //  Comments Off

US-Patent-WebUS Pat. Application No. 14/154,905 describes our method of predicting cryptic and exon skipping isoforms in mRNA produced by splicing mutations from the combined information contents and the distribution of the splice sites and other regulatory binding sites defining these exons.  Results obtained are highly concordant with result of expression studies.  A paper has been published in Human Mutation

July 13, 2014. Presentations at the 2014 American Society of Human Genetics Conference

Jul 13, 2014   //   by Peter Rogan   //   News  //  Comments Off

Cytognomix will be presenting several papers at the upcoming ASHG annual meeting (October 18-22, 2014, San Diego):

Using information theory to analyze and predict splicing mutations in rare and common diseases: performance and best practices. N.GCaminsky, E. Mucaki and P.K. Rogan

Reversing differences in chromatin accessibility that distinguish homologous mitotic metaphase chromosomes. W.A. Khan, P.K. Rogan, J.H.M. Knoll

Automated Dicentric Chromosome Identification by Machine Learning-based Image Processing. P.K. Rogan, Y. Li, A. Subasinghe, J. Samarabandu, R. Wilkins and J.H. Knoll

Towards the minimal breast cancer genome and its relevance to chemotherapy. S.N. Dorman, J.H. Knoll, K. Baranova, C. Viner, P.K. Rogan

The FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping and is a risk factor for familial breast cancer. Paolo Peterlongo ,  Francesca Damiola, Eliseos Mucaki,  Valentina Dall’Olio ,Sara Pizzamiglio  , Irene Catucci ,  Anders Kvist , Paolo Verderio, Mara Colombo , Loris Bernard ,  Hans Ehrencrona, Laura Caleca, Valeria Pensotti , Sylvie Mazoyer, Peter K. Rogan ,Paolo Radice

 

Please contact us if you would like to meet or discuss this work.

June 12, 2014. New product announcement

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

MutationForecaster™ (http://www.mutationforecaster.com) is Cytognomix’s new web-portal for analysis of all types of mutations, interpretation, comparison and management of genetic variant data.  It is an integrated suite of software products where coding, non-coding, copy number variant analyses can be carried out, compared with published or your own databases, maintained or downloaded.

Stay tuned for more developments about this exciting product…

May 23, 2014. A Comment about Variant Databases

May 24, 2014   //   by Peter Rogan   //   News  //  Comments Off

Variant databases are an essential resource for both clinical and research genomics. Has the variant been reported previously in a patient and if so, what was their phenotype? They are used to exclude benign or common variants as pathogenetic, based on their high frequency in asymptomatic individuals. Many researchers curate variant databases of specific loci, regularly contribute known and new to public databases, and several companies release products aimed at compiling and visualizing this data. Determining the frequency and recurrence of variants can only be done through this compilation procedure.  Clinical labs maintain their own databases and regularly query public and commercial variant repositories to make sense of newly generated sequencing findings. Of course, it’s a lot easier to write up a variant if all one has to do is look it up in a database.

There is a fundamental problem with this approach: in a genome of 3.2 billion nucleotides, there are an infinite number of  possible mutations (single and oligo nucleotide changes on each chromosome). There is no database in existence that can catalog all of these effects, nor predict these effects based on prior knowledge of all of the mutation combinations. Only computational modeling of sequence variant effects can possibly provide a means of evaluting newly discovered mutations without explicit reference to a database of prior variants.  The approaches that Cytognomix has developed complement existing databases by confirming evidence of selection against predicted pathogenic variants (low allele frequencies), but more importantly, can predict deleterious effects when the mutation has not been observed previously.

 

May 19, 2014. Veridical wins best paper award at two conferences!

May 19, 2014   //   by Peter Rogan   //   News  //  Comments Off

Coby Viner presented our F1000 paper on the Veridical algorithm and software at the 2014 Compute Ontario 1st Annual Research Conference (Waterloo, Ontario, May  7)  and at the 9th Annual Great Lakes Bioinformatics Conference (Cincinnati, Ohio, May 17). At these conferences, he received the Best Oral Presentation and Best Highlights Presentation award, respectively. This is an impressive achievement, and a testament to the originality and impact of the science.

Watch his presentation at the Compute Ontario conference:

May 14, 2014. Upcoming presentation at the 9th Annual Great Lakes Bioinformatics Conference

May 14, 2014   //   by Peter Rogan   //   News  //  Comments Off

Coby Viner will be presenting our paper, Validation of Predicted mRNA Splicing Mutations Using High Throughput Transcriptome Data at GL Bio on Saturday May 17th, at 2:30 PM in Rooms 203-204 of Cincinnati Childrens’ Medical Center, Cincinnati Ohio.  The paper was selected as an oral presentation in the Highlights session of the meeting.

May 12-13, 2014. Cytognomix exhibiting at OCE Discovery, Toronto

May 11, 2014   //   by Peter Rogan   //   News  //  Comments Off

Cytognomix is exhibiting at the Ontario Centers of Excellence Annual Discovery Conference at the Toronto Convention Center. Ben Shirley will be representing the company and demonstrating some of our software products. We can be found at Booth 1711 (South Building 800 Level)  in the High Performance Computing Pavilion on the main exhibit floor.  We invite you to pick up a copy of our white paper and brochure.

May 12-13, 2014. Presentation at the 3rd Cancer Genome Atlas Scientific Symposium

May 11, 2014   //   by Peter Rogan   //   News  //  Comments Off

Our abstract is being presented at The Cancer Genome Atlas’ 3rd Annual Scientific Symposium, at the Natcher Conference Center on the NIH Campus, Bethesda, MD. The presentation is:

Non-coding mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer. Dorman, S.N.1, Viner, C.2, Rogan, P.K1,2,3.
1Department of Biochemistry and 2Department of Computer Science, University of Western Ontario, London, ON, Canada, 3Cytognomix Inc., London, ON, Canada.

May 5, 2014. Presentation at the Cancer Genome Atlas 3rd Annual Symposium

May 5, 2014   //   by Peter Rogan   //   News  //  Comments Off

Dr. Peter Rogan will be presenting a paper at the TCGA symposium at the  Natcher Conference Center on the NIH Campus, Bethesda, MD on May 12-13, 2014. The title and authors are:

Non-coding mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.  Dorman, S.N.1, Viner, C.2, Rogan, P.K1,2,3.   1Department of Biochemistry and 2Department of Computer Science, University of Western Ontario, London, ON, Canada, 3Cytognomix Inc., London, ON, Canada.

The paper describes the use of Cytognomix’s Shannon splicing mutation pipeline and Veridical software to discover novel aberrant pathways in metastatic breast cancer.

Details about the meeting can be found at the conference website (link).

April 22, 2014. Validation of predicted splicing mutations paper in F1000Research – now in PubMed

Apr 22, 2014   //   by Peter Rogan   //   News  //  Comments Off

Paper describing automated  validation of splicing mutations using RNASeq data has been indexed in PubMed:

Validation of predicted mRNA splicing mutations using high-throughput transcriptome data.

Viner C, Dorman SN, Shirley BC, Rogan PK. Version 2. F1000Res. 2014 Jan 13 [revised 2014 Apr 7];3:8. doi: 10.12688/f1000research.3-8.v2. eCollection 2014.

PMID: 24741438

 
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