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Copy Number Polymorphism

Known as: Copy Number Polymorphisms, CNP, Copy Number Variation 
Refers to the genetic trait involving the number of copies of a particular gene present in the genome of an individual. Genetic variants, including… Expand
National Institutes of Health

Papers overview

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Review
2019
Review
2019
High-throughput technologies have been used to generate a large amount of omics data. In the past, single-level analysis has been… Expand
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Highly Cited
2010
Highly Cited
2010
Structural variations of DNA greater than 1 kilobase in size account for most bases that vary among human genomes, but are still… Expand
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Highly Cited
2009
Highly Cited
2009
We conducted a genome-wide association study testing single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) for… Expand
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Review
2009
Review
2009
Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs are being identified with various genome… Expand
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Highly Cited
2008
Highly Cited
2008
Accurate and complete measurement of single nucleotide (SNP) and copy number (CNV) variants, both common and rare, will be… Expand
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Highly Cited
2008
Highly Cited
2008
Dissecting the genetic basis of disease risk requires measuring all forms of genetic variation, including SNPs and copy number… Expand
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Highly Cited
2007
Highly Cited
2007
We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We… Expand
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Highly Cited
2006
Highly Cited
2006
Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed… Expand
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Highly Cited
2006
Highly Cited
2006
Identification of the genes underlying complex phenotypes and the definition of the evolutionary forces that have shaped… Expand
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Highly Cited
2004
Highly Cited
2004
The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we… Expand
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