Article
Association tests and software for copy number variant data.
Human genomics - 1 Jan 2009
Plagnol Vincent
Abstract excerpt
Recent studies have suggested that copy number variation (CNV) significantly contributes to genetic predisposition to several common disorders. These findings, combined with the imperfect tagging of CNVs by single nucleotide polymorphisms (SNPs), have motivated the development of association studies directly targeting CNVs. Several assays, including comparative genomic hybridisation arrays, SNP genotyping arrays,...
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