Cost-Effective Combinatorial Design for Rare-Disease Carrier Screen Using Next-Generation Sequencing Technology

• Activity Number: 623
• Type: Contributed
• Date/Time: Thursday, August 5, 2010 : 8:30 AM to 10:20 AM
• Sponsor: Biometrics Section
• Author(s): Lingling An*+ and Dear Pookhao
• Companies: The University of Arizona and The University of Arizona
• Keywords: next-generation sequencing ; pooling design ; rare mutation ; screening

Abstract

This research proposes a novel cost-effective combinatorial design for screening rare-disease carriers from a large population. Current detection methods on rare genetic disorders are very slow and expensive. The new technology, next-generation sequencing, makes it possible to perform carrier screen quickly for a large population using pooling or barcoding design. However, using either design is still very costly. The combinatorial design (pooling+barcoding) is proposed so that costs can be significantly reduced while keeping the detection power at the same level. This research proposal entails statistical techniques and software to enable other researchers to easily layout their own cost-effective design.