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Article

Statistical tests for detecting rare variants using variance-stabilising transformations.

Annals of human genetics - 1 Sept 2012

Wang Kai, Fingert John H

Abstract excerpt

Next generation sequencing holds great promise for detecting rare variants underlying complex human traits. Due to their extremely low allele frequencies, the normality approximation for a proportion no longer works well. The Fisher's exact method appears to be suitable but it is conservative. We investigate the utility of various variance-stabilising transformations in single marker association analysis on rare...

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PMID: 22724536
DOI: 10.1111/j.1469-1809.2012.00718.x
PMCID: PMC3418475

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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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