Figure 1

Algorithm process to detect genomic imbalances using SNP array data. (a) B allele frequency (BAF, red dots) from heterozygous clusters different to non altered probes (BAF 0.5) can be used to iddentify genomic imbalances. (b) b-deviation, b_dev, is computed to detect altered regions. (c) Probit transformation, Φ^-1(b_dev), is used to achieve normallity before applying a segmentation algorithm. (d) Segmentation algorithm detects altered regions. False discovery rate (FDR) can be controlled in this step. (e) After calling segments by using BAF values, LRR allows to classify altered regions in different kind of mosaic structural variations.