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Letter

Nature Genetics 38, 86–92 (1 January 2006) | doi:10.1038/ng1696

Common deletion polymorphisms in the human genome

Steven A McCarroll , Tracy N Hadnott , George H Perry , Pardis C Sabeti , Michael C Zody , Jeffrey C Barrett , Stephanie Dallaire , Stacey B Gabriel , Charles Lee , Mark J Daly , David M Altshuler & The International HapMap Consortium

The locations and properties of common deletion variants in the human genome are largely unknown. We describe a systematic method for using dense SNP genotype data to discover deletions and its application to data from the International HapMap Consortium to characterize and catalogue segregating deletion variants across the human genome.