Figure 2.
A flowchart outlining the procedure for CNV calling from genotyping data. The first step for LRR and BAF calculation can be alternatively performed by the BeadStudio software, given a clustering file containing canonical genotype cluster positions. The HMM integrates several sources of information to give CNV calls. When genotype data are available for family members, the pedigree information can be incorporated to model CNV events more accurately.