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Updated: Aug 8, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genome-wide association: a promising start to a long race
1The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK.
Abstract:
A recent study by Cheung et al. demonstrates how to identify expression quantitative trait loci (eQTLs) underlying gene expression phenotypes through a combination of genome-wide linkage analysis and subsequent fine mapping or by genome-wide association (GWA) analysis. This study emphasizes the complexity of human traits, highlighting the challenges faced by investigators--in particular, insufficient linkage disequilibrium between the trait and marker variant, genetic heterogeneity and correcting for multiple testing will all adversely impact the power to detect loci by association. These issues must be considered carefully if the GWA approach is to succeed in mapping complex phenotypes.
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