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| Open AccessParental relatedness through time revealed by runs of homozygosity in ancient DNA
Little is known about how human parental relatedness varied across ancient populations. Runs of homozygosity (ROH) in the offspring’s genome can give clues. Here, the authors present a method to identify ROH in ancient genomes and infer low rates of close kin unions across most ancient populations.
- Harald Ringbauer
- , John Novembre
- & Matthias Steinrücken
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Article
| Open AccessAutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
Homozygosity mapping is a useful tool for identifying candidate mutations in recessive conditions, however application to next generation sequencing data has been sub-optimal. Here, the authors present AutoMap, which efficiently identifies runs of homozygosity in whole exome/genome sequencing data.
- Mathieu Quinodoz
- , Virginie G. Peter
- & Carlo Rivolta
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Article
| Open AccessAutozygosity influences cardiometabolic disease-associated traits in the AWI-Gen sub-Saharan African study
The prevalence of cardiometabolic diseases (CMDs) is increasing rapidly across Africa. Here, the authors investigate autozygosity in CMD-associated traits in over 10,000 sub-Saharan African individuals, showing these traits are influenced by sex-specific inbreeding depression and environmental interactions.
- Francisco C. Ceballos
- , Scott Hazelhurst
- & Michèle Ramsay
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Article
| Open AccessAssociations of autozygosity with a broad range of human phenotypes
Inbreeding depression has been observed in many different species, but in humans a systematic analysis has been difficult so far. Here, analysing more than 1.3 million individuals, the authors show that a genomic inbreeding coefficient (FROH) is associated with disadvantageous outcomes in 32 out of 100 traits tested.
- David W Clark
- , Yukinori Okada
- & James F Wilson
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Article
| Open AccessExtreme inbreeding in a European ancestry sample from the contemporary UK population
Mating between first or second-degree relatives is prohibited in most countries, yet it occurs and is under-studied. Here, Yengo et al. use large runs of homozygosity from the UK Biobank resource to provide DNA-based quantification of extreme inbreeding and its consequence for health and other complex traits.
- Loic Yengo
- , Naomi R. Wray
- & Peter M. Visscher