ALLELE-SPECIFIC COPY NUMBER ESTIMATION BY WHOLE EXOME SEQUENCING

• 成果类型: Article
• 署名作者: Chen, Hao; Jiang, Yuchao; Maxwell, Kara N.; Nathanson, Katherine L.; Zhang, Nancy
• 署名单位: University of California System; University of California Davis; University of Pennsylvania; University of Pennsylvania
• 刊物名称: ANNALS OF APPLIED STATISTICS
• ISSN/ISSBN: 1932-6157
• DOI: 10.1214/17-AOAS1043
• 发表日期: 2017
• 页码: 1169-1192
• 关键词: circular binary segmentation

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.