[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 …
developmental disorders and susceptibility to diseases. More importantly, CNVs may …
[PDF][PDF] The fine-scale and complex architecture of human copy-number variation
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 …
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
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 …
variation in the human genome. The Affymetrix GeneChip 100 and 500 K SNP genotyping …
Global variation in copy number in the human genome
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 …
fully ascertained. We have constructed a first-generation CNV map of the human genome …
Copy number variation: new insights in genome diversity
DNA copy number variation has long been associated with specific chromosomal
rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not …
rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not …
A copy number variation map of the human genome
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
Copy-number variation in control population cohorts
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 …
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 …
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 …
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
A considerable and unanticipated plasticity of the human genome, manifested as inter-
individual copy number variation, has been discovered. These structural changes constitute …
individual copy number variation, has been discovered. These structural changes constitute …
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