Maximizing Efficiency for Next-Generation Sequencing

• Activity Number: 13
• Type: Topic Contributed
• Date/Time: Sunday, August 1, 2010 : 2:00 PM to 3:50 PM
• Sponsor: Biopharmaceutical Section
• Author(s): Joshua Sampson*+ and Nilanjan Chatterjee
• Companies: National Cancer Institute and National Cancer Institute
• Keywords: next generation sequencing ; GWAS ; rare variant ; genotyping

Abstract

Although Next Generation Sequencing (NGS) is hugely popular, there are still many unanswered questions as to how to use this tool efficiently. Here, we focus on how to best use NGS for rare variant detection and for association studies. For rare variant detection, we determine the optimal parameters for both detecting a heterozygous locus within an individual and for detecting a rare variant that exists within a population. For association studies, we discuss the subject selection, parameter optimization, and improved, unbiased test statistics. Overall, our aim is to improve the use of NGS in rare variant detection and association studies.