Translational Genomics Research Institute, Pheonix
PCR-free metastatic melanoma cell line paired with
Multi-institutional somatic reference standard using paired COLO829/COLO829BL cell lines
incorporates previously published results from the original COLO829 somatic analysis
TGen, GSC, Illumina each PCR-free prepared, sequenced, analyzed with in house pipelines
35,543 SNVs, 446 indels, and over 6,500 genes impacted by concurrent copy number changes
a union of 49,337 somatic single nucleotide variants (SNVs) was identified across all truth sets with 35,543 SNVs falling within the final reference set following filtering
GSC and Illumina utilize Strelka32 for SNV and small indel detection, whereas TGen pinpoints SNVs by identifying variants called by two out of three callers (MuTect33, Strelka32, Seurat34) and identifies small indels from an intersection of Strelka and Seurat calls