ArticleAmerican journal of human genetics1999
Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 167 papers, 3 of them syntheses that pooled it.
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Who cites it
167 citing papers in PubMed, 3 syntheses or guidelines pooled it, 376 citations in OpenAlex.
- Associations of autozygosity with a broad range of human phenotypes.Nature communications · 2019Pooled it
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- Consanguinity and the risk of congenital heart disease.American journal of medical genetics. Part A · 2012Pooled it
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- 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
- SwarmGenomics: A Unified Pipeline for Individual-Based Whole-Genome Analyses.Molecular ecology resources · 2026Article
- Probabilities of two alleles being identity by state at unobserved loci predicted by observed loci in cattle populations.Scientific reports · 2026Article
- Detection of selection signatures in indigenous African cattle reveals genomic footprints of adaptation, production and temperament traits.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- Comparative molecular analysis of colorectal cancer in Saudi Arabia: distinct genetic alterations and clinical features.Frontiers in oncology · 2026Article
- The Influence of Demographic History and Genetic Architecture on Complex Traits via Runs of Homozygosity.bioRxiv : the preprint server for biology · 2025Article
- A Test of the Long-Term Efficiency of Genetic Rescue With Drosophila melanogaster.Molecular ecology · 2025Article
- Fine-scale assessment of ROH patterns and genomic inbreeding in diverse horse breeds using two SNP array densities.BMC veterinary research · 2025Article
- Inbreeding and deleterious variation in South Asian populations.Scientific reports · 2025Article
- Valorization of feral pigs in the tropics, from the genetic characterization to the re-domestication.Scientific reports · 2025Article
- Dynamics of Deleterious Mutations and Purifying Selection in Small Population Isolates.Molecular biology and evolution · 2025Article
- Natural dispersal is better than translocation for reducing risks of inbreeding depression in eastern black rhinoceros (Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank.Journal of human genetics · 2025Article
107 more citing papers are in PubMed but not listed here.
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Using genotypes from nearly 8,000 short tandem-repeat polymorphisms typed in eight of the reference families from the Centre d'Etude du Polymorphisme Humain (CEPH), we identified numerous long chromosomal segments of marker homozygosity in many CEPH individuals. These segments are likely to represent autozygosity, the result of the mating of related individuals. Confidence that the complete segment is homozygous is gained only with markers of high density. The longest segment in the eight families spanned 77 cM and included 118 homozygous markers. All individuals in family 884 showed at least one segment of homozygosity: the father and mother were homozygous in 8 and 10 segments with an average length of 13 and 16 cM, respectively, and covering a total of 105 and 160 cM, respectively. The progeny in family 884 were homozygous over 5-16 segments with average length 11 cM. The progeny in family 102 were homozygous over 4-12 segments with average length 19 cM. Of the 100 individuals in the other six families, 1 had especially long homozygous segments, and 19 had short but significant homozygous segments. Our results indicate that long homozygous segments are common in humans and that these segments could have a substantial impact on gene mapping and health.
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Registered trials
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.