Abstract

Next-generation sequencing is among the latest developments in examining genetic causes of disease and phenotypes. Many researchers are jumping at this new, innovative approach and receiving their first batch of NGS data. Now what?

In this presentation, Dr. Bryce Christensen, Golden Helix's Statistical Geneticist, will explore tertiary methods - the "sense-making" part - of next-gen sequencing analysis including:

• The three stages of NGS analysis and what to expect from each stage.
• Starting with 5.2 M sequence variant sites in a family trio and systematically identifying a single gene exhibiting compound heterozygosity of rare damaging variants.
• Practical workflows for filtering large-scale NGS data to damaging rare variants.
• Using collapsing methods to explore associations between rare variants and phenotypes.

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

About the Presenter

Bryce Christensen fills two roles at Golden Helix as he is both the Director of Services as well as a Statistical Geneticist. Bryce joined GHI in 2009 from the University of Utah where he earned his PhD in Genetic Epidemiology and Biomedical Informatics. Before undertaking his graduate studies, Bryce worked for 2 years as a data analyst at Mayo Clinic in the Division of Biostatistics. Outside of work, Bryce has an affinity for restoring motorcycles and is currently in search of his next restoration project.