ArticleAmerican journal of human genetics2013
Long runs of homozygosity are enriched for deleterious variation.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 188 papers.
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Who cites it
188 citing papers in PubMed, 362 citations in OpenAlex.
- Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation.Scientific reports · 2021Trial
- Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.Proceedings of the National Academy of Sciences of the United States of America · 2016Trial
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- Updating the RZooRoH Package for the Analysis of Inbreeding, Identity-By-Descent and Relatedness From Genomic Data.Molecular ecology resources · 2026Article
- Population Decline, Inbreeding and Hybridization Shape the Genetic Vulnerability of a Critically Endangered Seabird.Molecular ecology · 2026Article
- Homozygosity Accumulated Through Genetic Drift and Inbreeding Underpins High Mutation Load in an Endangered Beluga Whale Population.Molecular ecology · 2026Article
- High kinship and runs of homozygosity characterize walleye Sander vitreus metapopulation diversity in Lake Champlain, USA.BMC ecology and evolution · 2026Article
- Imputation in the Wild: Genome-Wide Robustness and Fine-Scale Limitations of Low-Coverage Genomes in Endangered Species.Molecular ecology resources · 2026Article
- Genomic partitioning and functional dissection of inbreeding depression for stature in Brown Swiss cattle.Genetics, selection, evolution : GSE · 2026Article
- Article
- Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Genome-Wide Homozygosity Predicts Inbreeding Depression in the Hihi/Stitchbird (Evolutionary applications · 2026Article
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- Reflections on the Human Genome Diversity Project: a conversation with Marcus W. Feldman, Henry T. Greely, and Mary-Claire King.Genetics · 2026Article
- No Pedigree, No Problem: Genomic Inbreeding Tracks Genetic Rescue With High Resolution.Evolutionary applications · 2026Article
- Surviving the Squeeze: Genomic Analysis of a Successful Invasion by European Common Wall Lizards (Podarcis muralis) in North America (Ohio, USA).Molecular ecology · 2026Article
- Increased Genetic Load in Breed Chickens and Reduced Coding Content in Long ROH.Genome biology and evolution · 2026Article
- Runs of homozygosity in Italian Holstein bulls: a permutation approach and time-based mapping of the genomic regions potentially under selection.BMC genomics · 2026Article
- Genome-wide assessment of runs of homozygosity and inbreeding in Inner Mongolia cashmere goats reveals candidate genes for economic traits.Frontiers in veterinary science · 2026Article
128 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
Exome sequencing offers the potential to study the population-genomic variables that underlie patterns of deleterious variation. Runs of homozygosity (ROH) are long stretches of consecutive homozygous genotypes probably reflecting segments shared identically by descent as the result of processes such as consanguinity, population size reduction, and natural selection. The relationship between ROH and patterns of predicted deleterious variation can provide insight into the way in which these processes contribute to the maintenance of deleterious variants. Here, we use exome sequencing to examine ROH in relation to the distribution of deleterious variation in 27 individuals of varying levels of apparent inbreeding from 6 human populations. A significantly greater fraction of all genome-wide predicted damaging homozygotes fall in ROH than would be expected from the corresponding fraction of nondamaging homozygotes in ROH (p < 0.001). This pattern is strongest for long ROH (p < 0.05). ROH, and especially long ROH, harbor disproportionately more deleterious homozygotes than would be expected on the basis of the total ROH coverage of the genome and the genomic distribution of nondamaging homozygotes. The results accord with a hypothesis that recent inbreeding, which generates long ROH, enables rare deleterious variants to exist in homozygous form. Thus, just as inbreeding can elevate the occurrence of rare recessive diseases that represent homozygotes for strongly deleterious mutations, inbreeding magnifies the occurrence of mildly deleterious variants as well.
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