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The Fine-Scale and Complex Architecture of Human Copy-Number Variation
- Source :
- The American Journal of Human Genetics. 82(3):685-695
- Publication Year :
- 2008
- Publisher :
- Elsevier BV, 2008.
-
Abstract
- Despite considerable excitement over the potential functional significance of copy-number variants (CNVs), we still lack knowledge of the fine-scale architecture of the large majority of CNV regions in the human genome. In this study, we used a high-resolution array-based comparative genomic hybridization (aCGH) platform that targeted known CNV regions of the human genome at approximately 1 kb resolution to interrogate the genomic DNAs of 30 individuals from four HapMap populations. Our results revealed that 1020 of 1153 CNV loci (88%) were actually smaller in size than what is recorded in the Database of Genomic Variants based on previously published studies. A reduction in size of more than 50% was observed for 876 CNV regions (76%). We conclude that the total genomic content of currently known common human CNVs is likely smaller than previously thought. In addition, approximately 8% of the CNV regions observed in multiple individuals exhibited genomic architectural complexity in the form of smaller CNVs within larger ones and CNVs with interindividual variation in breakpoints. Future association studies that aim to capture the potential influences of CNVs on disease phenotypes will need to consider how to best ascertain this previously uncharacterized complexity.
- Subjects :
- Gene Dosage
Biology
Genome
Article
03 medical and health sciences
0302 clinical medicine
Genetic variation
Genetics
Humans
Genetics(clinical)
Copy-number variation
International HapMap Project
Genetics (clinical)
Oligonucleotide Array Sequence Analysis
030304 developmental biology
Genetic association
0303 health sciences
Genome, Human
Genetic Variation
Human genetics
Tandem Repeat Sequences
Evolutionary biology
030220 oncology & carcinogenesis
Human genome
Comparative genomic hybridization
Subjects
Details
- ISSN :
- 00029297
- Volume :
- 82
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- The American Journal of Human Genetics
- Accession number :
- edsair.doi.dedup.....01ab250cd75824e2f5283459febe1a28
- Full Text :
- https://doi.org/10.1016/j.ajhg.2007.12.010