Allele-specific copy number estimation by whole exome sequencing

Hao Chen, Yuchao Jiang, Kara N. Maxwell, Katherine L. Nathanson, Nancy Zhang

The Annals of Applied Statistics · 2017 · Volume 11 · Issue 2

Abstract

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.

Keywords

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

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