Open Access
June 2017 Allele-specific copy number estimation by whole exome sequencing
Hao Chen, Yuchao Jiang, Kara N. Maxwell, Katherine L. Nathanson, Nancy Zhang
Ann. Appl. Stat. 11(2): 1169-1192 (June 2017). DOI: 10.1214/17-AOAS1043


Whole exome sequencing is currently a technology of choice in large-scale cancer genomics studies, where the priority is to identify cancer-associated variants in coding regions. We describe a method for estimating allele-specific copy number using whole exome sequencing data from tumor and matched normal.


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Hao Chen. Yuchao Jiang. Kara N. Maxwell. Katherine L. Nathanson. Nancy Zhang. "Allele-specific copy number estimation by whole exome sequencing." Ann. Appl. Stat. 11 (2) 1169 - 1192, June 2017.


Received: 1 February 2016; Revised: 1 February 2017; Published: June 2017
First available in Project Euclid: 20 July 2017

zbMATH: 06775908
MathSciNet: MR3693562
Digital Object Identifier: 10.1214/17-AOAS1043

Keywords: Allele-specific copy number , tumor-normal pair , whole exome sequencing

Rights: Copyright © 2017 Institute of Mathematical Statistics

Vol.11 • No. 2 • June 2017
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