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Article

Population-genetic properties of differentiated human copy-number polymorphisms.

American journal of human genetics - 11 Mar 2011

Campbell Catarina D, Sampas Nick, Tsalenko Anya, Sudmant Peter H, Kidd Jeffrey M, Malig Maika, Vu Tiffany H, Vives Laura, Tsang Peter, Bruhn Laurakay, Eichler Evan E

Abstract excerpt

Copy-number variants (CNVs) can reach appreciable frequencies in the human population, and recent discoveries have shown that several of these copy-number polymorphisms (CNPs) are associated with human diseases, including lupus, psoriasis, Crohn disease, and obesity. Despite new advances, significant biases remain in terms of CNP discovery and genotyping. We developed a method based on single-channel intensity...

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Share to Comparative Genomic Hybridization
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetics, Population

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Share to Linkage Disequilibrium

Share to Mutagenesis, Insertional

Share to Polymorphism, Single Nucleotide

Source

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Identifiers

PMID: 21397061
DOI: 10.1016/j.ajhg.2011.02.004
PMCID: PMC3059424

Genes

CNP
OCLN

Provenance

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