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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 individua...

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17608949-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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