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Updated: Aug 8, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Detection of genetic effects of environmental agents
Abstract:
The fundamental problems in population monitoring for genetic effects are twofold: the binomialized nature of the data and the lower power due to small risk of finding positive results. The binomial character is artificial, even forced, and can with advantage be replaced by more refined analysis, and by a focus on all mutations, not merely harmful ones. Moreover, a binomial treatment ignores accessory information (birth order, clustering, etc.). But this objective requires that an explicit model be used instead of nonparametric methods; a cancer may represent multiple independent hits that should be separately scored; sequencing of a codon or its product may show multiple distinct changes.
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