Shallow whole-genome sequencing (WGS) using short-read sequencing can identify DNA copy number variations in cancer samples, including both low-level losses and gains and highly elevated read counts in specific genomic regions. The method involves sequencing DNA isolated from tumor tissues and aligning reads to the reference genome, followed by binning the genome into fixed-size intervals to determine raw copy number parameter estimationestimates by read counting. [@scheinin_dna_2014]

Definitions

Bibliography