Figure 1

The study design and whole genome sequencing analytical workflow. (A) The whole-genome sequencing (WGS) analysis share the same sample preparation, DNA extraction and quality control steps as WES (color shaded light green). The prepared genomic DNA libraries are pooled for WGS directly, while they require additional PCR amplification and hybridization steps to generate exomic libraries for pooled WES. (B) We integrated CNVkit, Gistic2 and various R packages to perform copy number segmentation, CNA calling and biomarker discovery analyses.