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Article

Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation.

BMC genomics - 3 Jul 2007

Macconaill Laura E, Aldred Micheala A, Lu Xincheng, Laframboise Thomas

Abstract excerpt

BACKGROUND: The recent discovery of widespread copy number variation in humans has forced a shift away from the assumption of two copies per locus per cell throughout the autosomal genome. In particular, a SNP site can no longer always be accurately assigned one of three genotypes in an individual. In the presence of copy number variability, the individual may theoretically harbor any number of copies of each of...

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PMID: 17608949
DOI: 10.1186/1471-2164-8-211
PMCID: PMC1934372

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