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Genetic Association Studies of Copy-Number Variation: Should Assignment of Copy Number States Precede Testing?

Recently, structural variation in the genome has been implicated in many complex diseases. Using genomewide single nucleotide polymorphism (SNP) arrays, researchers are able to investigate the impact not only of SNP variation, but also of copy-number variants (CNVs) on the phenotype. The most common...

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Detalles Bibliográficos
Autores principales: Breheny, Patrick, Chalise, Prabhakar, Batzler, Anthony, Wang, Liewei, Fridley, Brooke L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3320903/
https://www.ncbi.nlm.nih.gov/pubmed/22493684
http://dx.doi.org/10.1371/journal.pone.0034262