ArticleBMC genetics2008
A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan.
Article in BMC genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- MicroRNAs in Genetic Etiology of Human Diseases.Methods in molecular biology (Clifton, N.J.) · 2022Article
- CNVIntegrate: the first multi-ethnic database for identifying copy number variations associated with cancer.Database : the journal of biological databases and curation · 2021Article
- Genome-Wide Assessment Characteristics of Genes Overlapping Copy Number Variation Regions in Duroc Purebred Population.Frontiers in genetics · 2021Article
- Identifying the risk of producing aneuploids using meiotic recombination genes as biomarkers: A copy number variation approach.The Indian journal of medical research · 2017Article
- Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization.Genetics research · 2015Article
- Global spectrum of copy number variations reveals genome organizational plasticity and proposes new migration routes.PloS one · 2015Article
- Impact of copy number variations burden on coding genome in humans using integrated high resolution arrays.Genetics research · 2014Article
- The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation.Frontiers in genetics · 2013Article
- A preliminary study of copy number variation in Tibetans.PloS one · 2012Article
- Copy number variation of microRNA genes in the human genome.BMC genomics · 2011Article
- Article
- Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia.American journal of human genetics · 2009Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCopy 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.
resultsUsing stringent selection criteria, 230 regions with variable copy numbers were identified in the Han Chinese population; 133 (57.83%) had been reported previously, 64 displayed greater than 1% CNV allele frequency. The average size of the CNV regions was 322 kb (ranging from 1.48 kb to 5.68 Mb) and covered a total of 2.47% of the human genome. A total of 196 of the CNV regions were simple deletions and 27 were simple amplifications. There were 449 genes and 5 microRNAs within these CNV regions; some of these genes are known to be associated with diseases.
conclusionThe identified CNVs are characteristic of the Han Chinese population and should be considered when genetic studies are conducted. The CNV distribution in the human genome is still poorly characterized, and there is much diversity among different ethnic populations.
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