Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes - Fig 3

Coverage of selected genes from the CZECANCA (A-E) and TruSight Cancer sequencing (F) panels. The pictures show coverage (at y-axis) alongside the coding sequences of BRCA1 (NM_007294), BRCA2 (NM_000059), PALB2 (NM_024675), and TP53 (NM_000546), the vertical lines represent exon boundaries. Panels A–D show results obtained from a CZECANCA NGS analysis of various samples performed in four participating laboratories using the ultrasound (A, B) or enzymatic (C, D) DNA fragmentation protocol. Examples of the identified CNV aberrations in the depicted genes (deletions in BRCA1, BRCA2 and TP53 and duplication in PALB2) are shown in panel E. For comparison, panel F demonstrates the uneven coverage of the depicted genes by sequencing using the TruSight Cancer panel (Illumina).