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Article

Limitations of the human reference genome for personalized genomics.

PloS one - 1 Jan 2012

Rosenfeld Jeffrey A, Mason Christopher E, Smith Todd M

Abstract excerpt

Data from the 1000 genomes project (1KGP) and Complete Genomics (CG) have dramatically increased the numbers of known genetic variants and challenge several assumptions about the reference genome and its uses in both clinical and research settings. Specifically, 34% of published array-based GWAS studies for a variety of diseases utilize probes that overlap unanticipated single nucleotide polymorphisms (SNPs),...

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Identifiers

PMID: 22811759
DOI: 10.1371/journal.pone.0040294
PMCID: PMC3394790

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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