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Article

Complex SNP-related sequence variation in segmental genome duplications.

Nature genetics - 1 Aug 2004

Fredman David, White Stefan J, Potter Susanna, Eichler Evan E, Den Dunnen Johan T, Brookes Anthony J

Abstract excerpt

There is uncertainty about the true nature of predicted single-nucleotide polymorphisms (SNPs) in segmental duplications (duplicons) and whether these markers genuinely exist at increased density as indicated in public databases. We explored these issues by genotyping 157 predicted SNPs in duplicons and control regions in normal diploid genomes and fully homozygous complete hydatidiform moles. Our data identified...

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PMID: 15247918
DOI: 10.1038/ng1401

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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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