Abstract

The fifth installment of SNP & Variation Suite (SVS) 7 fills out the Sequence Analysis Module premiered in version 7.4, giving you more ways to explore and analyze your NGS data to identify variants that matter. The Genome Browser has also received a lot of attention, including two new features for greater plotting control.

In this webcast, Gabe Rudy will demonstrate the latest enhancements in SVS 7, demonstrating how to:

• Focus in on truly damaging variants, such as splice site mutations and insertions or deletions that cause frameshift errors, by classifying variants based on their potential effect.
• Visualize SNVs and indels in the genome browser to compare pattern differences among sample groups and identify regions of high mutation burden.
• Assess rare variant burden using new CMC and KBAC collapsing and association methods.
• Efficiently import a wider variety of VCF files and variant files from Complete Genomics.
• Easily search for genes, RSID#s, and other genomic features of interest and immediately navigate to their location.
• Quickly compare differences among sample subgroups with integrated coloring, grouping, and filtering in all plots.

Walk away with an understanding of how to derive meaning from your NGS data based on the latest methods and workflows.

About the Presenter

Gabe Rudy is GHI's Vice President of Product Development and has been a team member for 8 years. Gabe is continually scouting the fast changing fields of both genetics analysis and software development. This in turn leads to curating features and infrastructure improvements so that the GHI development team can regularly provide our valued customers with top-of-the-line software releases to further accelerate their research. Gabe joined Golden Helix while still an undergrad student at MSU-Bozeman and then ventured to the University of Utah where he received his masters degree in Computer Science. Outside of the office Gabe enjoys taking advantage of what life in the Rocky Mountains has to offer: white water kayaking, skiing, and running. However, with a brand new addition to the Rudy family, Gabe truly loves spending time with his son and family.