ASHG 2010: Improving the Power of Your Study with Advanced Genotype Calling, Imputation, and Next-Generation Sequencing

Presenter: Dr. Bryce Christensen, Golden Helix Director of Services

Date: November 4, 2010

Duration: 50 Minutes

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Abstract

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The volume of GWAS data is constantly growing. The content of SNP arrays is increasing, consortium efforts are accelerating, public databases are expanding, and we are at the threshold of the sequencing revolution. The increasing amount of data, and especially the increasing ability to identify rare sequence variants, presents a variety of complex problems for statistical analysis and identification of disease susceptibility loci. A major concern in analyzing high-density, low-frequency variants is developing methods to increase study power while reducing the burden of type-I error rates. Data quality is a basic requirement for increasing power and reducing false positive results. There is no substitute for genotype accuracy and completeness. In this presentation, we will discuss the BEAGLECALL and BEAGLE software packages for advanced genotype calling and imputation. We will review the capabilities and limitations of these methods for improving data quality. We will further explore methods for incorporating next-generation sequencing data in GWAS. Current best practices for analysis of sequence data will be presented together with a preview of the tools for DNA sequence analysis that will soon be available in the Golden Helix SNP and Variation Suite.

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.