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Article

SNP discovery in pooled samples with mismatch repair detection.

Genome research - 1 Jul 2004

Fakhrai-Rad Hossein, Zheng Jianbiao, Willis Thomas D, Wong Kee, Suyenaga Kent, Moorhead Martin, Eberle Jim, Thorstenson Yvonne R, Jones Ted, Davis Ronald W, Namsaraev Eugeni, Faham Malek

Abstract excerpt

A targeted discovery effort is required to identify low frequency single nucleotide polymorphisms (SNPs) in human coding and regulatory regions. We here describe combining mismatch repair detection (MRD) with dideoxy terminator sequencing to detect SNPs in pooled DNA samples. MRD enriches for variant alleles in the pooled sample, and sequencing determines the nature of the variants. By using a genomic DNA pool as...

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Identifiers

PMID: 15231755
DOI: 10.1101/gr.2373904
PMCID: PMC442157

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

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