JSM 2011 Online Program

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Abstract Details

Activity Number: 148
Type: Invited
Date/Time: Monday, August 1, 2011 : 10:30 AM to 12:20 PM
Sponsor: IMS
Abstract - #300321
Title: Statistical and Computational Methods for the Analysis of Pooled, Targeted, Second-Generation Resequencing Data
Author(s): Hector Corrada Bravo*+
Companies: University of Maryland
Address: Center for Bioinformatics and Computational Biolog, College Park, MD, 20742,
Keywords:
Abstract:

The ability to effectively and cheaply genotype a large number of samples by pooled targeted re-sequencing using second-generation technologies holds exciting promise for clinical and biological applications. In this talk we will report findings on systematic biases in this technology that must be addressed in order to properly carry out this task. First, we report on batch effects in samples where targeted regions are captured by hybridization and discuss the impact of this on SNP and CNV finding. Second, we discuss technical biases in base-calling and their effect on genotyping and allele rate estimation. We will report statistical and computational solutions for this problems ranging from base-calling and quality assurance to allele rate estimation and SNP calling.


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