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.

引用

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页码：1169 / 1192

页数：24

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