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Article

A population threshold for functional polymorphisms.

Genome research - 1 Aug 2003

Wong Gane Ka-Shu, Yang Zhiyong, Passey Douglas A, Kibukawa Miho, Paddock Marcia, Liu Chun-Rong, Bolund Lars, Yu Jun

Abstract excerpt

We sequenced 114 genes (for DNA repair, cell cycle arrest, apoptosis, and detoxification)in a mixed human population and observed a sudden increase in the number of functional polymorphisms below a minor allele frequency of approximately 6%. Functionality is assessed by considering the ratio in the number of nonsynonymous single nucletide polymorphisms (SNPs)to the number of synonymous or intron SNPs. This ratio...

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Identifiers

PMID: 12902381
DOI: 10.1101/gr.1324303
PMCID: PMC403778

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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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