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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:
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