ALLELE-SPECIFIC COPY NUMBER ESTIMATION BY WHOLE EXOME SEQUENCING

作者：Chen Hao^*; Jiang Yuchao; Maxwell Kara N; Nathanson Katherine L; Zhang Nancy

来源：Annals of Applied Statistics, 2017, 11(2): 1169-1192.

DOI：10.1214/17-AOAS1043

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

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.

• 出版日期2017-6