A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan.

ABSTRACT:

Background

Copy number variations (CNVs) have recently been recognized as important structural variations in the human genome. CNVs can affect gene expression and thus may contribute to phenotypic differences. The copy number inferring tool (CNIT) is an effective hidden Markov model-based algorithm for estimating allele-specific copy number and predicting chromosomal alterations from single nucleotide polymorphism microarrays. The CNIT algorithm, which was constructed using data from 270 HapMap multi-ethnic individuals, was applied to identify CNVs from 300 unrelated Han Chinese individuals in Taiwan.

Results

Using stringent selection criteria, 230 regions with variable copy numbers were identified in the Han Chinese population; 133 (57.83%) had been reported previously, 64

SUBMITTER: Lin CH 

PROVIDER: S-EPMC2629477 | biostudies-literature | 2008 Dec

REPOSITORIES: biostudies-literature