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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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Bibliografiske detaljer
Main Authors: MacConaill, Laura E, Aldred, Micheala A, Lu, Xincheng, LaFramboise, Thomas
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2007
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1934372/
https://ncbi.nlm.nih.gov/pubmed/17608949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-8-211
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