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Updated: Jul 5, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
Comparison of false-discovery rate for genome-wide and fine mapping regions
Meredith E Tabangin1, Jessica G Woo, Chunyan Liu
1Department of Pediatrics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 5041, Cincinnati, Ohio 45229-3039, USA. meredith.tabangin@cchmc.org
Abstract:
With technological advances in high-throughput genotyping, it is not unusual to perform hundreds of thousands of tests for each phenotype. Thus, correction to control type I error is essential. The false-discovery rate (FDR) has been successfully used in genome-wide expression data. However, its performance has not been evaluated for association analysis. Our objective was to analyze the Genetic Analysis Workshop 15 simulated data set, with answers, to evaluate FDR for genome-wide association and fine mapping. In genome-wide analysis, FDR performed well, with good localization of positive results. However, in fine mapping, all tested methods performed poorly, producing a high proportion of significant results. Thus, caution should be used when employing FDR for fine mapping.
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