This is the program for the 2010 Joint Statistical Meetings in Vancouver, British Columbia.

Abstract Details

Activity Number: 623
Type: Contributed
Date/Time: Thursday, August 5, 2010 : 8:30 AM to 10:20 AM
Sponsor: Biometrics Section
Abstract - #308802
Title: Cost-Effective Combinatorial Design for Rare-Disease Carrier Screen Using Next-Generation Sequencing Technology
Author(s): Lingling An*+ and Dear Pookhao
Companies: The University of Arizona and The University of Arizona
Address: 1177 E 4th ST, Shantz building, RM 403, Tucson, AZ, 85721,
Keywords: next-generation sequencing ; pooling design ; rare mutation ; screening

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.

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