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Systematic assessment of copy-number variant detection via genome-wide single nucleotide polymorphism genotyping

Single nucleotide polymorphism (SNP) genotyping has emerged as a technology to incorporate copy-number variants (CNVs) into genetic analyses of human traits. However, the extent to which SNP platforms accurately capture CNVs remains unclear. Using independent, sequence-based CNV maps, we find that c...

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Détails bibliographiques
Auteurs principaux: Cooper, Gregory M., Zerr, Troy, Kidd, Jeffrey M., Eichler, Evan E., Nickerson, Deborah A.
Format: Artigo
Langue:Inglês
Publié: 2008
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2759751/
https://ncbi.nlm.nih.gov/pubmed/18776910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.236
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