Conrad, Donald; Andrews, Thomas Daniel; Carter, Nigel; Hurles, Matthew; Pritchard, Jonathan
Recent work has shown that copy number polymorphism is an important class of genetic variation in human genomes1-4. Here we report a new method that uses SNP genotype data from parent-offspring trios to identify polymorphic deletions. We applied this method to data from the International HapMap Project5 to produce the first high-resolution population surveys of deletion polymorphism. Approximately 100 of these deletions have been experimentally validated using comparative genome hybridization...[Show more]
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