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

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....

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Detalles Bibliográficos
Autores principales:	MacConaill, Laura E, Aldred, Micheala A, Lu, Xincheng, LaFramboise, Thomas
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2007
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1934372/ https://www.ncbi.nlm.nih.gov/pubmed/17608949 http://dx.doi.org/10.1186/1471-2164-8-211

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