Figure 1
From: A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan
A flowchart of this study. The parameters of the copy number inferring tool (CNIT) algorithm for single nucleotide polymorphism (SNP) copy number (CN) estimations were determined using a reference group that consisted of 210 unrelated, multi-ethnic HapMap individuals. The emission and transition probabilities of the hidden Markov model were determined using data from 40 HapMap individuals, and were verified using data from 20 additional HapMap individuals. After construction of the CNIT algorithm, data from 300 unrelated Han Chinese individuals in Taiwan were used to predict candidate CN-altered regions. A total of 549 reliable CN-altered regions were identified; 230 regions showed copy number variations (CNVs) in at least two individuals.