Fig. 1.

CODEX2 can be applied under two experimental designs to identify common and rare, germline and somatic CNVs. a CODEX2 with negative control samples. The goal is to recover both rare and common CNV signals present disproportionately in the cases versus the controls. b CODEX2 without negative control samples. The goal is to identify all CNVs in all samples, e.g., to detect germline CNVs in healthy individuals without prior knowledge of disease status