Table 1 (a, b, c, d). Highly confident detection of SNVs, Indels, CNV and MSI using Horizon Discovery FFPET control and CrownBio FFPET xenograft samples. Performance was demonstrated using a KAPA HyperPETE Choice Panel (capture target of 88 Kb plus 25 Kb of the Roche preset MSI targets). True positive detection rates were 100% for SNVs, or Indels (Table 1a), CNVs (Table 1b) and MSI (Table 1c), without any false negatives. False positive rate was 0% for microsatellite stable samples (Table 1d). Final libraries were sequenced on an Illumina NextSeq™ 550 system. Total read pairs (2x150 bp) per sample ranged from 12.5M to 20.4M and data was analyzed using an internal Roche secondary analysis pipeline to assess the variant detection.
* Variants were present but not included in the true positive rate calculation as read support was lower than the cutoff used in the analysis pipeline.