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The allelic architecture of human disease genes: common disease-common variant...or not?

Human molecular genetics - 1 Oct 2002

Pritchard Jonathan K, Cox Nancy J

Abstract excerpt

Linkage disequilibrium (LD) plays a central role in current and proposed methods for mapping complex disease genes. LD-based methods work best when there is a single susceptibility allele at any given disease locus, and generally perform very poorly if there is substantial allelic heterogeneity. The extent of allelic heterogeneity at typical complex disease loci is not yet known, but predictions about allelic...

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PMID: 12351577
DOI: 10.1093/hmg/11.20.2417

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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