Detection of homozygous deletions in various tumor samples by the segmentation approach. All samples are hybridized on Illumina 300k or 370k BeadChips. For all parts, the upper panel shows the mirrored B allele frequency profile and the bottom panel shows the copy number profile. Red lines represents the CBS segmentation profile. Horizontal dashed lines in the mBAF panel represents the threshold for calling allelic imbalance (0.56). (a) Chromosome 13 of CLL sample 7 (data set 4) with a homozygous deletion on 13q14 in 80% of analyzed tumor cells. (b) Homozygous deletion of CDKN2A on chromosome 9p21.3 in urothelial tumor UC211_R (data set 2). (c) Homozygous deletions on chromosome 2q34 and 2q37.2 in breast tumor 1 (data set 1).
Staaf et al. Genome Biology 2008 9:R136 doi:10.1186/gb-2008-9-9-r136