ArticleGenetics2016
Heterozygosity Ratio, a Robust Global Genomic Measure of Autozygosity and Its Association with Height and Disease Risk.
Article in Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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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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Who cites it
31 citing papers in PubMed.
- EXCAVATE-HT: A Bioinformatic Pipeline to Identify Targetable Genomic Variants for Allele-Specific Editing.bioRxiv : the preprint server for biology · 2026Article
- Multi-Locus Nuclear Marker Assessment of Genetic Diversity in Swiss Orthoptera Unveils Conservation Status Limitations.Molecular ecology · 2026Article
- Leveraging human genetic variation to therapeutically target hundreds of genes with dominant & dispensable disease alleles.medRxiv : the preprint server for health sciences · 2026Article
- NGSTroubleFinder: a tool for detection and quantification of contamination and kinship across human NGS data.NAR genomics and bioinformatics · 2026Article
- X-linked competition - implications for human development and disease.Nature reviews. Genetics · 2025Review
- Genomic insights into genome-wide heterozygosity and its impact on walnut adaptive evolution and improvement.Molecular breeding : new strategies in plant improvement · 2025Article
- The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra.Nature communications · 2025Article
- Runs of Homozygosity and Inferences in Wild Populations.Molecular ecology · 2025Review
- Article
- Detection and evaluation of parameters influencing the identification of heterozygous-enriched regions in Holstein cattle based on SNP chip or whole-genome sequence data.BMC genomics · 2024Article
- Characterization of heterozygosity-rich regions in Italian and worldwide goat breeds.Scientific reports · 2024Article
- A Comprehensive Analysis of 3 Moroccan Genomes Revealed Contributions From Both African and European Ancestries.Evolutionary bioinformatics online · 2024Article
- Transcriptomics and chromatin accessibility in multiple African population samples.bioRxiv : the preprint server for biology · 2023Article
- Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.Molecular genetics and genomics : MGG · 2023Article
- Validation of Polygenic Risk Scores for Coronary Heart Disease in a Middle Eastern Cohort Using Whole Genome Sequencing.Circulation. Genomic and precision medicine · 2022Article
- Genetic structure and historic demography of endangered unarmoured threespine stickleback at southern latitudes signals a potential new management approach.Molecular ecology · 2022Article
- Article
- Characterization of runs of homozygosity, heterozygosity-enriched regions, and population structure in cattle populations selected for different breeding goals.BMC genomics · 2022Article
- Heterozygosity and homozygosity regions affect reproductive success and the loss of reproduction: A case study with litter traits in pigs.Computational and structural biotechnology journal · 2022Article
- GTQC: Automated Genotyping Array Quality Control and Report.Journal of genomics · 2022Article
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
Greater genetic variability in an individual is protective against recessive disease. However, existing quantifications of autozygosity, such as runs of homozygosity (ROH), have proved highly sensitive to genotyping density and have yielded inconclusive results about the relationship of diversity and disease risk. Using genotyping data from three data sets with >43,000 subjects, we demonstrated that an alternative approach to quantifying genetic variability, the heterozygosity ratio, is a robust measure of diversity and is positively associated with the nondisease trait height and several disease phenotypes in subjects of European ancestry. The heterozygosity ratio is the number of heterozygous sites in an individual divided by the number of nonreference homozygous sites and is strongly affected by the degree of genetic admixture of the population and varies across human populations. Unlike quantifications of ROH, the heterozygosity ratio is not sensitive to the density of genotyping performed. Our results establish the heterozygosity ratio as a powerful new statistic for exploring the patterns and phenotypic effects of different levels of genetic variation in populations.
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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.