The Ontario Genomics Institute (OGI) and Cytognomix Inc. are hosting a 30 minute webinar about the Shannon Human Splicing Pipeline – software for genome-scale splicing mutation analysis on April 24th at 1 PM EST. We require all attendees to register for the webinar on April 24, 2013 at 1:00 PM (EST) at the OGI website: https://ogi.factorial.ca/Forms/fm_forms.jsp?token=HwkGRx0GZl5aSxdR
The Shannon Human Splicing Pipeline is an information theory-based tool for splicing mutation detection and analysis on a genome-scale. It offers high-throughput variant analysis and can examine – for example – 211,049 variants in 1 hour 12 minutes on an I7-based CPU. The software has been implemented for the CLC-Bio Genomics Workbench platform. Variants are annotated to indicate the context of novel mutations as well as common and rare SNPs with splicing effects. Potential natural and cryptic mRNA splicing variants are identified, and null mutations are distinguished from leaky mutations. Variants determined to be potentially deleterious can be viewed in tabular format, as plots, or genome browser tracks. A post-hoc filtering process can further reduce the number of resulting variants. Some pipeline results will be examined, pipeline implementation will be described, and the post-hoc filtering process will be discussed. Check out our recently published paper: Shirley BC, Mucaki EJ, Whitehead T, Costea PI, Akan P, Rogan PK. Interpretation, Stratification and Evidence for Sequence Variants Affecting mRNA Splicing in Complete Human Genome Sequences. Genomics Proteomics Bioinformatics. 2013 Mar 14. doi:pii: S1672-0229(13)00029-6. 10.1016/j.gpb.2013.01.008. [Epub ahead of print] PubMed PMID: 23499923
The presentation will be led by Ben Shirley, the chief developer of the Shannon Human Splicing Pipeline. The webinar will be appropriate for all levels of researchers interested in using the software to reduce a genome-scale list of splicing variants to a tractable set of potentially deleterious mutations, suitable for further analysis in the laboratory.
On the day of the webinar, you will be able to access the webinar by clicking here and entering as a guest.
Please be sure to provide your name, title, institution and valid email address so that we can send you an email with webinar details and instructions.