In this webinar we will highlight key features and enhancements of soon-to-be released BioDiscovery Nexus version 7.5. Expanded support for sequence variant data, including functional annotations, filtering, and visualization, coming from NGS or other platforms is a major new feature in version 7.5. Additionally support for loading and processing of BAM files to extracts copy number results from sequencing data has been added. In particular, ngCGH algorithm has been added to support exome sequencing data. And there are more options for seq. variant display (gene/region-based frequency plots and user-defined symbol and color representation of seq. variant events).
Several enhancements have been done to further simplify the case review process. These include additional controls in the sample review window as well as multi-track visualization of events in previous cases overlapping a region of interest in the case under review. The visualization shows events, previous classification (e.g. benign, pathogenic, etc.), notes, as well as details about previous case and the probe distribution visualization. Event filtering has been expanded to include those for removing parental calls from trio cases to display only de novo calls in proband and those for display of events falling in specified regions (complementary to existing filters masking regions).
In addition to BAM files, support for new data types includes that for Affymetrix OSCHP data (from the new OncoScan V3 platform) with a choice of using the Affymetrix TuScan algorithm or BioDiscovery’s SNP-FASST algorithm for segmentation and option to display SNP probes plot as allele peaks or BAF.
This webinar is geared towards current users of BioDiscovery Nexus as well as those who are familiar with the software and would like to see the new features in version 7.5.
Register now by selecting a time below:
Wed, Dec 11, 2013 5:00 PM – 5:30 PM PST / 01:00 GMT