ALLELE-SPECIFIC COPY NUMBER ESTIMATION BY WHOLE EXOME SEQUENCING

被引：5
|
作者：
Chen, Hao [1 ]
Jiang, Yuchao [2 ]
Maxwell, Kara N. [3 ]
Nathanson, Katherine L. [3 ]
Zhang, Nancy [2 ]
机构：
[1] Univ Calif Davis, Dept Stat, One Shields Ave, Davis, CA 95616 USA
[2] Univ Penn, Wharton Sch, Dept Stat, Philadelphia, PA 19104 USA
[3] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA
来源：
ANNALS OF APPLIED STATISTICS | 2017年 / 11卷 / 02期
关键词：
Allele-specific copy number; whole exome sequencing; tumor-normal pair; CIRCULAR BINARY SEGMENTATION;
D O I：
10.1214/17-AOAS1043
中图分类号：
O21 [概率论与数理统计]; C8 [统计学];
学科分类号：
020208 ; 070103 ; 0714 ;
摘要：
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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页码：1169 / 1192
页数：24
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