Article

Beyond 5×10⁻⁸: MAF-Specific Significance Thresholds for Genome-Wide Association Studies in three major populations

2025-04-24

Abstract excerpt

<title>Abstract</title> <p>Introduction : Conventional genome-wide association study (GWAS) thresholds, notably 5×10⁻⁸, were established under assumptions that may not hold across diverse populations and whole-genome sequencing (WGS) analyses. Given the complex linkage disequilibrium structure of the human genome, a single fixed threshold risks inadequate type I error control. Here, we sought to derive minor all...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2c80f7e0-2181-573b-99c5-8a80fd169073
DOI: 10.21203/rs.3.rs-6234338/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Beyond 5×10⁻⁸: MAF-Specific Significance Thresholds for Genome-Wide Association Studies in three major populationsDOI 10.21203/rs.3.rs-6234338/v1Read

The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants.Semantic proximity Read

GWAS significance thresholds in large cohortsSemantic proximity Read

Guidelines for conducting and reporting whole genome/large-scale association studies.Semantic proximity Read

Recommended joint and meta-analysis strategies for case-control association testing of single low-count variants.Semantic proximity Read

An efficient resampling method for calibrating single and gene-based rare variant association analysis in case-control studies.Semantic proximity Read

Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms.Semantic proximity Read

A resource of “bottom-line” variant associations for 1,281 complex traits by integrating data across published genome-wide association studiesSemantic proximity Read

Empirically determined baseline masking strategies and other considerations for gene-level burden tests.Semantic proximity Read

Enhancing the power to detect low-frequency variants in genome-wide screens.Semantic proximity Read

Evaluating and improving power in whole-genome association studies using fixed marker sets.Semantic proximity Read

Per-allele disease and complex trait effect sizes are predominantly African MAF-dependent in European populationsSemantic proximity Read

Genome-wide association filtering using a highly locus-specific transmission/disequilibrium test.Semantic proximity Read