Allele-specific copy number estimation by whole exome sequencing. (English) Zbl 1391.62206

Summary: 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.


62P10 Applications of statistics to biology and medical sciences; meta analysis
62L10 Sequential statistical analysis
Full Text: DOI Euclid