Ion Reporter™Software simplifies variant calling, annotation
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Uploaded on Jun 2, 2012
This video is Ion Torrent's Dr. Andy Felton describing the new Ion Reporter™ Software. The application eliminates expensive and complex bioinformatics barriers, allowing rapid and simple identification and annotation of mutations to advance clinical research. This secure cloud-based software performs alignments, generates variants, and performs automated annotation on Ion PGM data, revealing biological significance. Variants are classified into simple categories that are summarized into a report, allowing easier interpretation by researchers unfamiliar with sequencing. Ion ReporterTM Software offers customizable workflows for multiple linked samples, enabling reproducible analysis for routine assays and sharing of Ion AmpliSeqTM experiments across a geographically dispersed set of users, thereby accelerating team based research.
Below is a transcript of the interview:
Dr. Andy Felton:
Ion Reporter Software is going to be the tool that will enable researchers to really simplify and deal with the data output for Next Generation Sequencing. One of the problems today has been that the researchers are deluged with the amount of data that comes out of Next Generation Sequences. And it's difficult to derive the meaning from that data. What Ion Reporter does is really simplifies that process. So it takes the raw data that comes out in the Next Generation Sequencing Platform, and it analyzes the variants. It can actually go out and interrogate data bases out there in the world like Online Mendelian Inheritance in Man or the Cosmic Somatic Mutation Database, and add the annotation of the meaning the biological significance to those mutations that you're finding out of either the Inherited Disease Panel, the Comprehensive Cancer Panel or your own custom design panel.
So it enables you to do that with a simple workflow. The analysis just takes about 30 minutes. You can customize that workflow to suit yourself, and the whole process allows you to generate a very simple report that condenses the information down into a manageable form for distribution amongst the research teams or the people who are interested in the significance of the variants you're finding from any of our Ion Ampliseq products, the Comprehensive Cancer Panel, the Inherited Disease Panel or any custom panel that you choose to use. We've got some really fantastic improvements coming in, Torrent Suite Version 2.2, and in particular in the area of variant calling we have a new variant calling algorithm that we've developed, and it's given us about a 40% increase in our accuracy rates as well as a 40% increase in accuracy and sensitivity for somatic mutations.
In addition, we've got about 3X speed up in our ability to detect single nuclear type variants. And overall, a second area that we're really focused on was the calling of indels. In this particular version of Torrent Suite we can now call indels up to 70 base pairs in length. Torrent Suite also has some great new functionality to help the people in their workflow in the lab. So first of all, there is support for paired-end workflows within the new Torrent Suite version. There is a new set of plug-ins that allow you to, for example, combine different runs from Ampliseq to increase your coverage. There is the ability now to combine alignments together, and there's also the ability to link out to our TaqMan portfolio of assays. If you want to pull assays from your variants that you identify within the Torrent variant caller, we've got a direct link out to those variants to search in the four and a half million TaqMan assays that we have available off the shelf.
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