Sequence Variant Analysis

Leveraging Annotation Databases and Bioinformatic Filtering to Effectively Analyze NGS Data

Presenters: Daniel Frost, Field Application Scientist

Date: June 26, 2012

Duration: 45 Minutes




Bioinformatics filtering and rare variant analysis are some of the most relevant approaches to taking advantage of the latest in high-throughput sequencing technologies. The capacity to generate data long ago eclipsed the ability to make sense of that data.

In this presentation, Daniel Frost, Golden Helix’s Field Application Scientist, will leverage the most prevalent annotation databases and the latest Golden Helix technology to demonstrate a straightforward way to visually and statistically understand your data.

The presentation will include contextual demonstration of the following:

  • A simple approach to bringing in all of your data into one platform.
  • The application of powerful bioinformatics filtering workflows using updated 1000 Genomes data and dbNSFP.
  • How to apply statistically relevant collapsing methods to explore associations between rare variants and phenotypes.
  • A visually compelling way to see the variations that help both define your subpopulations and drive statistical associations.

From this presentation, you will come away with an understanding of how to apply the latest analysis technology and annotation databases to derive meaning from your variant data.

About the Presenter

Daniel Frost As a Field Application Scientist, Daniel Frost is a technical resource for Golden Helix whose educational focus is to empower both new and tenured clients in their research, and to help build an understanding of how Golden Helix can have a positive impact on their work through Golden Helix's products and services. Before joining GHI, Dan was a statistical data analyst for the Priscu Research Group. In his time away from the office, Dan is an avid alpine skier, a vintage BMW enthusiast, and he loves spending as much time with his family as he can.

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