通过全外显子组测序进行等位基因特异性拷贝数估计
ALLELE-SPECIFIC COPY NUMBER ESTIMATION BY WHOLE EXOME SEQUENCING.
作者信息
Chen Hao, Jiang Yuchao, Maxwell Kara N, Nathanson Katherine L, Zhang Nancy
机构信息
University of California, Davis.
University of Pennsylvania.
出版信息
Ann Appl Stat. 2017 Jun;11(2):1169-1192. doi: 10.1214/17-AOAS1043. Epub 2017 Jul 20.
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.
摘要
全外显子组测序目前是大规模癌症基因组学研究中的首选技术，其重点是在编码区识别癌症相关变异。我们描述了一种使用肿瘤和匹配正常样本的全外显子组测序数据来估计等位基因特异性拷贝数的方法。
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