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Letter

Nature Genetics 36, 861–866 (1 August 2004) | doi:10.1038/ng1401

Complex SNP-related sequence variation in segmental genome duplications

David Fredman , Stefan J White , Susanna Potter , Evan E Eichler , Johan T Den Dunnen & Anthony J Brookes

There is uncertainty about the true nature of predicted single-nucleotide polymorphisms (SNPs) in segmental duplications (duplicons) and whether these markers genuinely exist at increased density as indicated in public databases. We explored these issues by genotyping 157 predicted SNPs in duplicons and control regions in normal diploid genomes and fully homozygous complete hydatidiform moles.