ArticleG3 (Bethesda, Md.)2015
Exact Inference for Hardy-Weinberg Proportions with Missing Genotypes: Single and Multiple Imputation.
Article in G3 (Bethesda, Md.), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Allelic association analyses: estimation recommendations.Genetics · 2026Article
- STICI: Split-Transformer with integrated convolutions for genotype imputation.Nature communications · 2025Article
- Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain.Nature neuroscience · 2022Article
- Pseudoreplication in genomic-scale data sets.Molecular ecology resources · 2022Article
- Genome-Wide Association Study of Metamizole-Induced Agranulocytosis in European Populations.Genes · 2020Article
- On the testing of Hardy-Weinberg proportions and equality of allele frequencies in males and females at biallelic genetic markers.Genetic epidemiology · 2018Article
- Article
- A genome-wide study of Hardy-Weinberg equilibrium with next generation sequence data.Human genetics · 2017Article
- A POWERFUL METHOD FOR INCLUDING GENOTYPE UNCERTAINTY IN TESTS OF HARDY-WEINBERG EQUILIBRIUM.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2017Article
- Testing for Hardy-Weinberg equilibrium at biallelic genetic markers on the X chromosome.Heredity · 2016Article
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Authors and funding
4 authors.
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Abstract
This paper addresses the issue of exact-test based statistical inference for Hardy-Weinberg equilibrium in the presence of missing genotype data. Missing genotypes often are discarded when markers are tested for Hardy-Weinberg equilibrium, which can lead to bias in the statistical inference about equilibrium. Single and multiple imputation can improve inference on equilibrium. We develop tests for equilibrium in the presence of missingness by using both inbreeding coefficients (or, equivalently, χ(2) statistics) and exact p-values. The analysis of a set of markers with a high missing rate from the GENEVA project on prematurity shows that exact inference on equilibrium can be altered considerably when missingness is taken into account. For markers with a high missing rate (>5%), we found that both single and multiple imputation tend to diminish evidence for Hardy-Weinberg disequilibrium. Depending on the imputation method used, 6-13% of the test results changed qualitatively at the 5% level.
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