Using VarSeq to Improve Variant Analysis Research Workflows


Date: Wednesday, June 10th, 2015

Presenter: Bryce Christensen, Director of Services

Duration: 60 Minutes

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Slides

Using VarSeq to Improve Variant Analysis Research Workflows

Abstract

Many questions must be answered when analyzing DNA sequence variants: How do I determine which variants are potentially deleterious? Is the sequencing quality sufficient? How do I prioritize the results? Which annotation sources may help answer my research question?

In this webinar presentation, we will review workflow strategies for quality control and analysis of DNA sequence variants using the VarSeq software package from Golden Helix. VarSeq is a powerful platform for analysis of DNA sequence variants in clinical and translational research settings. VarSeq provides researchers with easy access to curated public databases of variant annotation information, and also enables users to incorporate their own local databases or downloaded information about variants and genomic regions.

The presentation will include interactive demonstrations using VarSeq to analyze variants found by exome sequencing of an extended family with a complex disease. We will review strategies for assessing variant quality, applying genomic annotations, incorporating custom annotation sources, and creating variant filters in VarSeq. We will also demonstrate the PhoRank gene ranking algorithm and its application for prioritizing variants.

About the Presenter

Dr. Bryce Christensen, Statistical Geneticist

Dr. 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.