ArticleBMC genomics2010
Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data.
Article in BMC genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
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- Determinants of Human Asymmetry: Does Asymmetrical Retinal Vasculature Predict Asymmetry Elsewhere in the Body?Life (Basel, Switzerland) · 2024Article
- Inferring Individual Inbreeding and Demographic History from Segments of Identity by Descent inGenetics · 2017Article
- Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.Nature genetics · 2016Article
- Construction of relatedness matrices using genotyping-by-sequencing data.BMC genomics · 2015Article
- Global mobility and the break-up of human population isolates - neglected mechanisms in health, demographics, and anthropology.Croatian medical journal · 2015Article
- Measuring individual inbreeding in the age of genomics: marker-based measures are better than pedigrees.Heredity · 2015Article
- Article
- Random inbreeding, isonymy, and population isolates in Argentina.Journal of community genetics · 2014Article
- A new likelihood estimator and its comparison with moment estimators of individual genome-wide diversity.Heredity · 2011Article
- Does inbreeding affect N-glycosylation of human plasma proteins?Molecular genetics and genomics : MGG · 2011Article
- Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?European journal of human genetics : EJHG · 2011Article
- Article
- Regions of homozygosity and their impact on complex diseases and traits.Human genetics · 2011Review
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13 authors.
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Abstract
backgroundGenome-wide homozygosity estimation from genomic data is becoming an increasingly interesting research topic. The aim of this study was to compare different methods for estimating individual homozygosity-by-descent based on the information from human genome-wide scans rather than genealogies. We considered the four most commonly used methods and investigated their applicability to single-nucleotide polymorphism (SNP) data in both a simulation study and by using the human genotyped data. A total of 986 inhabitants from the isolated Island of Vis, Croatia (where inbreeding is present, but no pedigree-based inbreeding was observed at the level of F > 0.0625) were included in this study. All individuals were genotyped with the Illumina HumanHap300 array with 317,503 SNP markers.
resultsSimulation data suggested that multi-point FEstim is the method most strongly correlated to true homozygosity-by-descent. Correlation coefficients between the homozygosity-by-descent estimates were high but only for inbred individuals, with nearly absolute correlation between single-point measures.
conclusionsDeciding who is really inbred is a methodological challenge where multi-point approaches can be very helpful once the set of SNP markers is filtered to remove linkage disequilibrium. The use of several different methodological approaches and hence different homozygosity measures can help to distinguish between homozygosity-by-state and homozygosity-by-descent in studies investigating the effects of genomic autozygosity on human health.
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