ArticleHuman heredity2019
Power and Sample Size Calculations for Genetic Association Studies in the Presence of Genetic Model Misspecification.
Article in Human heredity, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 6 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
64 citing papers in PubMed, 6 syntheses or guidelines pooled it, 86 citations in OpenAlex.
- Integrative bioinformatics frameworks for abdominal aortic aneurysm using GWAS meta-analysis, biological network construction, and structural modeling.Scientific reports · 2025Pooled it
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- Meta-analysis of genome-wide association studies of stable warfarin dose in patients of African ancestry.Blood advances · 2024Pooled it
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- Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease.Lupus science & medicine · 2022Pooled it
- GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.Nature communications · 2022Pooled it
- Novel Alzheimer's disease-associated variants and genetic interactions identified from UK biobank whole-exome sequencing data using IBI-DT.Scientific reports · 2026Article
- Immune-Related Gene Variants as Modifiers of Multiple Sclerosis Severity.International journal of molecular sciences · 2026Article
- Novel method for risk stratification of radiation-induced breast fibrosis: subgroup hypothesis verified by machine learning.NPJ breast cancer · 2026Article
- Genetic associations with longevity in a Calabrian cohort: an exploratory genome-wide study.GeroScience · 2026Article
- Genetic Variations in the Fibronectin 1 Gene (International journal of molecular sciences · 2026Article
- Impact of control selection strategies on GWAS results: a study of prostate cancer in the UK Biobank.Briefings in bioinformatics · 2026Article
- Genome-wide gene-environment interaction study uncovers 162 vitamin D status variants using a precise ambient UVB measure.Nature communications · 2025Article
- Genetic variants associated with chronic postsurgical pain: evidence from the China Surgery and Anaesthesia Cohort study.British journal of anaesthesia · 2025Observational
- Article
- The Influence of Clinical Factors and Genetic Variants ofInternational journal of molecular sciences · 2025Article
- Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity.American journal of human genetics · 2025Article
- Genome-to-genome analysis reveals associations between human and mycobacterial genetic variation in tuberculosis patients from Tanzania.BMC medical genomics · 2025Article
- BCG induced innate immune response heterogeneity and susceptibility to pediatric tuberculosis.Journal of immunology (Baltimore, Md. : 1950) · 2025Article
- Genomic dissection of sleep archetypes in a large autism cohort.medRxiv : the preprint server for health sciences · 2025Article
4 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
introductionWhen analyzing data from large-scale genetic association studies, such as targeted or genome-wide resequencing studies, it is common to assume a single genetic model, such as dominant or additive, for all tests of association between a given genetic variant and the phenotype. However, for many variants, the chosen model will result in poor model fit and may lack statistical power due to model misspecification.
objectiveWe develop power and sample size calculations for tests of gene and gene × environment interaction, allowing for misspecification of the true mode of genetic susceptibility.
methodsThe power calculations are based on a likelihood ratio test framework and are implemented in an open-source R package ("genpwr").
resultsWe use these methods to develop an analysis plan for a resequencing study in idiopathic pulmonary fibrosis and show that using a 2-degree of freedom test can increase power to detect recessive genetic effects while maintaining power to detect dominant and additive effects.
conclusionsUnderstanding the impact of model misspecification can aid in study design and developing analysis plans that maximize power to detect a range of true underlying genetic effects. In particular, these calculations help identify when a multiple degree of freedom test or other robust test of association may be advantageous.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.