Fig. 1

Coverage- and copy number variation analysis of DPYD exons. A Top: Ideogram of chromosome 1 and schematic representation of the DPYD gene located at the 1p21.3 locus and the NM_000110.4 transcript. Exons are illustrated as vertical lines, regions targeted by probes as orange rectangles and introns as horizontal lines with arrows. Arrows denote the direction of transcription. Bottom: Raw coverage analysis plots for exons 8–11 of DPYD, showing no coverage of exons 9 and 10 in the patient (blue colour) in contrast to the other samples of the same CES run (yellow colour) and those of a different CES run (black colour). B Copy number variant (CNV) analysis plots. Left plot illustrates the log2 coverage ratios after normalization across all samples of each run [same CES run (yellow lines), different CES run (black lines)]. The right plot shows the copy number calls for each probe for each sample. In both plots the blue line represents the patient’s sample