[PDF][PDF] A comprehensive analysis of common copy-number variations in the human genome

KK Wong, RJ deLeeuw, NS Dosanjh, LR Kimm… - The American Journal of …, 2007 - cell.com
Segmental copy-number variations (CNVs) in the human genome are associated with
developmental disorders and susceptibility to diseases. More importantly, CNVs may …

[PDF][PDF] The fine-scale and complex architecture of human copy-number variation

GH Perry, A Ben-Dor, A Tsalenko, N Sampas… - The American Journal of …, 2008 - cell.com
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 …

Germ-line DNA copy number variation frequencies in a large North American population

G Zogopoulos, KCH Ha, F Naqib, S Moore, H Kim… - Human genetics, 2007 - Springer
Genomic copy number variation (CNV) is a recently identified form of global genetic
variation in the human genome. The Affymetrix GeneChip 100 and 500 K SNP genotyping …

Global variation in copy number in the human genome

R Redon, S Ishikawa, KR Fitch, L Feuk, GH Perry… - nature, 2006 - nature.com
Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be
fully ascertained. We have constructed a first-generation CNV map of the human genome …

Copy number variation: new insights in genome diversity

JL Freeman, GH Perry, L Feuk, R Redon… - Genome …, 2006 - genome.cshlp.org
DNA copy number variation has long been associated with specific chromosomal
rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not …

A copy number variation map of the human genome

M Zarrei, JR MacDonald, D Merico… - Nature reviews …, 2015 - nature.com
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

Copy-number variation in control population cohorts

D Pinto, C Marshall, L Feuk… - Human molecular …, 2007 - academic.oup.com
Copy-number variation (CNV) is the most prevalent type of structural variation in the human
genome, and contributes significantly to genetic heterogeneity. It has already been …

Implications of gene copy-number variation in health and diseases

SH Almal, H Padh - Journal of human genetics, 2012 - nature.com
Inter-individual genomic variations have recently become evident with advances in
sequencing techniques and genome-wide array comparative genomic hybridization. Among …

Copy number variations in East-Asian population and their evolutionary and functional implications

SH Yim, TM Kim, HJ Hu, JH Kim, BJ Kim… - Human Molecular …, 2010 - academic.oup.com
Recent discovery of the copy number variation (CNV) in normal individuals has widened our
understanding of genomic variation. However, most of the reported CNVs have been …

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

JS Beckmann, X Estivill, SE Antonarakis - Nature Reviews Genetics, 2007 - nature.com
A considerable and unanticipated plasticity of the human genome, manifested as inter-
individual copy number variation, has been discovered. These structural changes constitute …