CNA detection performance. (a) Example of CNA data. HCC2218 cell
line mixed with matched normal sample at 100% (a),
50% (b) and 20% tumor content (c).
Y axes denote log-ratio measurements of coverage obtained
in test samples versus a normal reference sample, with assessed copy numbers
marked by dashed lines. Each point denotes a genomic region measured by the
assay (blue exon, cyan SNP), and these are ordered by genomic position. Red
lines indicate average log-ratio in a segment, whereas green lines illustrate
the model prediction. Asterisks denote the detected CDH1
homozygous deletion (chr16) and ERBB2 amplification (chr17).
(d) Summary of sensitivity results of CNA calling validation
study for focal amplifications and homozygous deletions in samples with tumor
fractions ≥30% and 20–30%. Error bars,
s.e.m.