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

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posted on 2018-04-12, 17:59 authored by Jana Soukupova, Petra Zemankova, Klara Lhotova, Marketa Janatova, Marianna Borecka, Lenka Stolarova, Filip Lhota, Lenka Foretova, Eva Machackova, Viktor Stranecky, Spiros Tavandzis, Petra Kleiblova, Michal Vocka, Hana Hartmannova, Katerina Hodanova, Stanislav Kmoch, Zdenek Kleibl

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).