ArticleGenetic epidemiology2009
Genome-wide autozygosity mapping in human populations.
Article in Genetic epidemiology, 2009. 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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Who cites it
31 citing papers in PubMed.
- 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 assessment identifies novel runs of homozygosity linked to Parkinson's disease etiology across diverse ancestral populations.medRxiv : the preprint server for health sciences · 2025Article
- Runs of Homozygosity and Inferences in Wild Populations.Molecular ecology · 2025Review
- Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Nature genetics · 2024Article
- Associations of genome-wide and regional autozygosity with 96 complex traits in old order Amish.BMC genomics · 2023Article
- Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes.Annals of human biology · 2023Article
- Genetic Diversity, Admixture and Analysis of Homozygous-by-Descent (HBD) Segments of Russian Wild Boar.Biology · 2022Article
- Genomic evidence for inbreeding depression and purging of deleterious genetic variation in Indian tigers.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Genetic ancestry plays a central role in population pharmacogenomics.Communications biology · 2021Article
- Age-based partitioning of individual genomic inbreeding levels in Belgian Blue cattle.Genetics, selection, evolution : GSE · 2017Article
- Weighted likelihood inference of genomic autozygosity patterns in dense genotype data.BMC genomics · 2017Article
- GARLIC: Genomic Autozygosity Regions Likelihood-based Inference and Classification.Bioinformatics (Oxford, England) · 2017Article
- Inferring Individual Inbreeding and Demographic History from Segments of Identity by Descent inGenetics · 2017Article
- Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.Frontiers in immunology · 2017Review
- Genomics advances the study of inbreeding depression in the wild.Evolutionary applications · 2016Review
- Consanguinity Rates Predict Long Runs of Homozygosity in Jewish Populations.Human heredity · 2016Article
- Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals.JAMA neurology · 2015Article
- Extensive genome-wide autozygosity in the population isolates of Daghestan.European journal of human genetics : EJHG · 2015Article
- Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity.JAMA neurology · 2013Article
- Long runs of homozygosity are enriched for deleterious variation.American journal of human genetics · 2013Article
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4 authors.
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Abstract
Individuals are frequently observed to have long segments of uninterrupted sequences of homozygous markers. One of the major mechanisms that gives rise to such long homozygous segments is consanguineous marriages, where parents pass shared chromosomal segments to their child. Such chromosomal segments are also known as autozygous segments. The clinical evidence that progeny from inbred individuals may have reduced health and fitness because of homozygosity of recessive alleles is well known. As the length of such homozygous segments depends on the degree of parental consanguinity, it would be logical to observe shorter homozygous segments in more outbred populations. However, a recent study identified long homozygous regions, thus likely to be autozygous segments in the HapMap populations. While an abundance of homozygous segments may significantly reduce the ability to fine map disease genes using association studies, detecting tracts of extended homozygosity related to disease status seems the natural next step in genome-wide association studies beyond allele, genotype and haplotype association analyses. In this study, we propose a new algorithm to map disease-related segments based on autozygosity using case-control data. The underlying rationale for the proposed method is that shared autozygosity regions that differ between diseased and healthy individuals may harbor mutations underlying diseases. Specifically, our algorithm uses a sliding-window framework and employs a logarithm of the odds score measure of autozygosity coupled with permutation-based methods to identify disease-related regions. We illustrate the advantage of the algorithm with its application to a genome-wide association study on Parkinson's disease.
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