Introducing VarSeq: Variant Discovery & Gene Panels Made Easy

Date: October 1, 2014

Presenter: Gabe Rudy, Vice-President of Product Development

Duration: 60 Minutes

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Abstract

Next Generation Sequencing has transitioned from a new and exciting technology with research potential to a robust and diverse assay with immediate clinical utility.

We at Golden Helix have been building and maturing software solutions through this turbulent and innovative time resulting in NGS becoming a staple of our industry.

With GenomeBrowse, we have built the world's best NGS visualization platform. We continue to evolve and expand the statistical and bioinformatics capabilities of our research-focused SNP & Variation Suite. Our collective experience and expertise has been folded into the core technology that powers these products.

We introduce to you: VarSeq! VarSeq is a next generation tool designed around a focused and intuitive user interface for analyzing Next Generation Sequencing data, powered with the same mature Golden Helix core technology for data management, annotation, and visualization.

Included in this webcast are these demonstrations:

• Running a cancer gene panel with an automated workflow
• Investigate quality and analytic filters on somatic allelic ratios and annotations
• Take the same process and scale it up to whole exomes, in minutes, on a desktop
• See in parallel the filtering of different inheritance patterns such as de Novo Dominant and Compound Heterozygous Recessive in exome trios
• Manage your workflows and annotations locally, without cloud-dependent components, where you can control when and how algorithms and annotations are updated