ArticleFrontiers in genetics2020
Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era.
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 2 of them syntheses that pooled it.
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Who cites it
55 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Polygenic Risk and Nutrient Intake Interactions on Obesity Outcomes: A Systematic Review and Meta-Analysis of Observational Studies.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2025Pooled it
- Methodological Appraisal of Literature Concerning the Analysis of Genetic Variants or Protein Levels of Complement Components on Susceptibility to Infection by Trypanosomatids: A Systematic Review.Frontiers in immunology · 2021Pooled it
- Evolutionary Signatures of Thermotolerance Shaped by Adaptive Admixtures in the Ghurrah Pig of India.Journal of molecular evolution · 2026Article
- Assessing Hardy-Weinberg equilibrium in T2T-aligned 1000 genomes project.PLoS genetics · 2026Article
- RASEL: An Ensemble Model for Selection of Core SNPs and Its Application for Identification and Classification of Cattle Breeds.Biochemical genetics · 2026Article
- Adaptive introgression shaping genomic adaptation and ancestral mosaicism of Changthangi sheep for high-altitude survival and pashmina excellence.BMC genomics · 2026Article
- Gene therapy via CRISPR/Cas9-mediated Cxcr4 disease allele inactivation reverses leukopenia in WHIM mice.The Journal of clinical investigation · 2026Article
- Integrated Molecular and Hematobiochemical Biomarkers for the Detection of Bovine Babesiosis in Holstein Calves.Veterinary sciences · 2026Article
- Identification of novel fatty acid-binding protein 4 polymorphisms and association of g.5002C>T with longissimus dorsi thickness in Indonesian Bali cattle (Veterinary world · 2026Article
- Genotype-phenotype correlations in breast cancer susceptibility: evaluating MMP-2, TYMS, and eNOS variants in the Jordanian population.Scientific reports · 2026Article
- Assessing the Association Between Genetic Variants in ACE, SOD1, and PER3 and their Role in Breast Cancer Risk among Jordanian Women.Journal of Cancer · 2026Article
- Impact of GST and TP53 gene polymorphisms on susceptibility to end stage renal disease: A case-control analysis.PloS one · 2026Article
- Genetic variants associated with systemic inflammatory disease associate with temporomandibular symptoms with or without periodontitis.PloS one · 2026Article
- Hardy-Weinberg Equilibrium Filtering in Population Genomics: Empirical Review and Decision Framework for Improved Practice.Ecology and evolution · 2026Review
- Identification of reproductive and molecular biomarkers associated with clinical metritis in dromedary camels (Frontiers in veterinary science · 2026Article
- Vitamin D-related genetic variants as predictive biomarkers for breast cancer in Jordanian women.Frontiers in medicine · 2026Article
- Admixture mapping identifies complex trait associations with local ancestry in themedRxiv : the preprint server for health sciences · 2025Article
- Application of Genome-Assisted Prediction (GAP) for Apple Fruit Weight.Plants (Basel, Switzerland) · 2025Article
- Genome-wide SNP evidence for the genetic uniqueness of indigenous cattle population.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Association of genotypes at single-nucleotide polymorphisms inIBRO neuroscience reports · 2025Article
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Authors and funding
3 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Hardy-Weinberg Equilibrium (HWE) is used to estimate the number of homozygous and heterozygous variant carriers based on its allele frequency in populations that are not evolving. Deviations from HWE in large population databases have been used to detect genotyping errors, which can result in extreme heterozygote excess (HetExc). However, HetExc might also be a sign of natural selection since recessive disease causing variants should occur less frequently in a homozygous state in the population, but may reach high allele frequency in a heterozygous state, especially if they are advantageous. We developed a filtering strategy to detect these variants and applied it on genome data from 137,842 individuals. The main limitations of this approach were quality of genotype calls and insufficient population sizes, whereas population structure and inbreeding can reduce sensitivity, but not precision, in certain populations. Nevertheless, we identified 161 HetExc variants in 149 genes, most of which were specific to African/African American populations (∼79.5%). Although the majority of them were not associated with known diseases, or were classified as clinically "benign," they were enriched in genes associated with autosomal recessive diseases. The resulting dataset also contained two known recessive disease causing variants with evidence of heterozygote advantage in the sickle-cell anemia
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