ArticleAmerican journal of human genetics2019
Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed.
- GWAS integrating maternal and child genetics reveals novel risk-modifying loci for fetal alcohol spectrum disorders (FASD).Research square · 2026Article
- Increased Genetic Load in Breed Chickens and Reduced Coding Content in Long ROH.Genome biology and evolution · 2026Article
- The Influence of Demographic History and Genetic Architecture on Complex Traits via Runs of Homozygosity.bioRxiv : the preprint server for biology · 2025Article
- Admixture Increases Genetic Diversity and Adaptive Potential in Australasian Killer Whales.Molecular ecology · 2025Article
- How admixed captive breeding populations could be rescued using local ancestry information.Molecular ecology · 2025Article
- Long runs of homozygosity are reliable genomic markers of inbreeding depression.Trends in ecology & evolution · 2025Review
- Dynamics of Deleterious Mutations and Purifying Selection in Small Population Isolates.Molecular biology and evolution · 2025Article
- Nested Admixture During and After the Trans-Atlantic Slave Trade on the Island of São Tomé.Molecular biology and evolution · 2025Article
- Parameter Scaling in Population Genetics Simulations may Introduce Unintended Background Selection: Considerations for Scaled Simulation Design.Genome biology and evolution · 2025Article
- Insights from the Biorepository and Integrative Genomics pediatric resource.Nature communications · 2025Article
- Visualization of Runs of Homozygosity and Classification Using Convolutional Neural Networks.Biology · 2025Article
- The Biorepository and Integrative Genomics resource for inclusive genomics: insights from a diverse pediatric and admixed cohort.medRxiv : the preprint server for health sciences · 2025Article
- Genome-wide scan for signatures of selection in Hanwoo and Angus cattle using whole-genome sequence data.PloS one · 2025Article
- Genomic Consequences of Isolation and Inbreeding in an Island Dingo Population.Genome biology and evolution · 2024Article
- The Maintenance of Deleterious Variation in Wild Chinese Rhesus Macaques.Genome biology and evolution · 2024Article
- The influence of gene flow on population viability in an isolated urban caracal population.Molecular ecology · 2024Article
- The Maintenance of Deleterious Variation in Wild Chinese Rhesus Macaques.bioRxiv : the preprint server for biology · 2024Article
- Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.BMC medical genomics · 2024Article
- Genomic consequences of isolation and inbreeding in an island dingo population.bioRxiv : the preprint server for biology · 2024Article
- The impact of the Turkish population variome on the genomic architecture of rare disease traits.Genetics in medicine open · 2024Article
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7 authors.
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Abstract
Runs of homozygosity (ROH) are important genomic features that manifest when an individual inherits two haplotypes that are identical by descent. Their length distributions are informative about population history, and their genomic locations are useful for mapping recessive loci contributing to both Mendelian and complex disease risk. We have previously shown that ROH, and especially long ROH that are likely the result of recent parental relatedness, are enriched for homozygous deleterious coding variation in a worldwide sample of outbred individuals. However, the distribution of ROH in admixed populations and their relationship to deleterious homozygous genotypes is understudied. Here we analyze whole-genome sequencing data from 1,441 unrelated individuals from self-identified African American, Puerto Rican, and Mexican American populations. These populations are three-way admixed between European, African, and Native American ancestries and provide an opportunity to study the distribution of deleterious alleles partitioned by local ancestry and ROH. We re-capitulate previous findings that long ROH are enriched for deleterious variation genome-wide. We then partition by local ancestry and show that deleterious homozygotes arise at a higher rate when ROH overlap African ancestry segments than when they overlap European or Native American ancestry segments of the genome. These results suggest that, while ROH on any haplotype background are associated with an inflation of deleterious homozygous variation, African haplotype backgrounds may play a particularly important role in the genetic architecture of complex diseases for admixed individuals, highlighting the need for further study of these populations.
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