JSM 2011 Online Program

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Abstract Details

Activity Number: 418
Type: Contributed
Date/Time: Tuesday, August 2, 2011 : 2:00 PM to 3:50 PM
Sponsor: IMS
Abstract - #301496
Title: Copy Number Variation Detection Using Next-Generation Sequencing Data
Author(s): Heng Wang*+ and Dan Nettleton
Companies: Iowa State University and Iowa State University
Address: , , ,
Keywords: copy number variation ; next generation sequencing ; Hidden Markov Model
Abstract:

Modern genomic technologies enable us to understand the genetic mechanisms of cancers and diseases. Recently developed next generation sequencing technology shows advantages in the aspects of resolution and accuracy in detecting disease related copy number variations (CNV). We present a novel algorithm for CNV detection using next generation sequencing data. Our method incorporates Hidden Markov Models and Bayesian methods to obtain the posterior probability of each underlying copy number "state" for every aligned position along the genome. The proposed method also accounts for spatial dependencies among positions. We use simulation and analysis of real data sets to compare our method with recently published approaches.


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