A multi-institutionally defined somatic reference standard for paired tumor/normal whole genome sequencing. Somatic reference standard for cancer whole genome sequencing

In this study, we separately performed PCR-free whole genome sequencing on the paired tumor/normal melanoma COLO-829 & lymphoblastoid COLO-829BL cell lines across three separate institutions (TGen, Illumina, Genome Sciences Centre at the British Columbia Cancer Agency). We performed a meta-analysis of all data, in combination with the originally reported analysis of these cell lines by Pleasance et al., and report a somatic reference standard based on consensus events. This standard can be used as a reference for tumor/normal whole genome analyses.