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Article

Are rare variants responsible for susceptibility to complex diseases?

American journal of human genetics - 1 Jul 2001

Pritchard J K

Abstract excerpt

Little is known about the nature of genetic variation underlying complex diseases in humans. One popular view proposes that mapping efforts should focus on identification of susceptibility mutations that are relatively old and at high frequency. It is generally assumed-at least for modeling purposes-that selection against complex disease mutations is so weak that it can be ignored. In this article, I propose an...

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Identifiers

PMID: 11404818
DOI: 10.1086/321272
PMCID: PMC1226027

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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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