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Article

Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms.

American journal of human genetics - 1 Jan 2008

Gorlov Ivan P, Gorlova Olga Y, Sunyaev Shamil R, Spitz Margaret R, Amos Christopher I

Abstract excerpt

Currently, single-nucleotide polymorphisms (SNPs) with minor allele frequency (MAF) of >5% are preferentially used in case-control association studies of common human diseases. Recent technological developments enable inexpensive and accurate genotyping of a large number of SNPs in thousands of cases and controls, which can provide adequate statistical power to analyze SNPs with MAF <5%. Our purpose was to...

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Identifiers

PMID: 18179889
DOI: 10.1016/j.ajhg.2007.09.006
PMCID: PMC2253956

Genes

MAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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