Runs of homozygosity: windows into population history and trait architecture

Francisco C. Ceballos; Peter Joshi; David Clark; Michele Ramsay; James Wilson

doi:10.1038/nrg.2017.109

Runs of homozygosity: windows into population history and trait architecture

Francisco C. Ceballos, Peter Joshi, David Clark, Michele Ramsay, James Wilson

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Abstract / Description of output

Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding gives rise to such autozygosity; however, genome-wide data reveal that ROH are universally common in human genomes even among outbred individuals. The number and length of ROH reflect individual demographic history while the homozygosity burden can be used to investigate the genetic architecture of complex disease. We discuss how to identify ROH in genome-wide microarray and sequence data, their distribution in human populations and application to the understanding of inbreeding depression and disease risk.

Original language	English
Journal	Nature Reviews Genetics
Early online date	15 Jan 2018
DOIs	https://doi.org/10.1038/nrg.2017.109
Publication status	E-pub ahead of print - 15 Jan 2018

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10.1038/nrg.2017.109

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title = "Runs of homozygosity: windows into population history and trait architecture",

abstract = "Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding gives rise to such autozygosity; however, genome-wide data reveal that ROH are universally common in human genomes even among outbred individuals. The number and length of ROH reflect individual demographic history while the homozygosity burden can be used to investigate the genetic architecture of complex disease. We discuss how to identify ROH in genome-wide microarray and sequence data, their distribution in human populations and application to the understanding of inbreeding depression and disease risk.",

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AU - Ceballos, Francisco C.

AU - Joshi, Peter

AU - Clark, David

AU - Ramsay, Michele

AU - Wilson, James

PY - 2018/1/15

Y1 - 2018/1/15

N2 - Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding gives rise to such autozygosity; however, genome-wide data reveal that ROH are universally common in human genomes even among outbred individuals. The number and length of ROH reflect individual demographic history while the homozygosity burden can be used to investigate the genetic architecture of complex disease. We discuss how to identify ROH in genome-wide microarray and sequence data, their distribution in human populations and application to the understanding of inbreeding depression and disease risk.

AB - Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding gives rise to such autozygosity; however, genome-wide data reveal that ROH are universally common in human genomes even among outbred individuals. The number and length of ROH reflect individual demographic history while the homozygosity burden can be used to investigate the genetic architecture of complex disease. We discuss how to identify ROH in genome-wide microarray and sequence data, their distribution in human populations and application to the understanding of inbreeding depression and disease risk.

U2 - 10.1038/nrg.2017.109

DO - 10.1038/nrg.2017.109

M3 - Article

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JO - Nature Reviews Genetics

JF - Nature Reviews Genetics

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Runs of homozygosity: windows into population history and trait architecture

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