Runs of homozygosity in European populations.

Estimating individual genome-wide autozygosity is important both in the identification of recessive disease variants via homozygosity mapping and in the investigation of the effects of genome-wide homozygosity on traits of biomedical importance. Approaches have tended to involve either single-point estimates or rather complex multipoint methods of inferring individual autozygosity, all on the basis of limited marker data.

Now, with the availability of high-density genome scans, a multipoint, observational method of estimating individual autozygosity is possible. Using data from a 300,000 SNP panel in 2618 individuals from two isolated and two more-cosmopolitan populations of European origin, we explore the potential of estimating individual autozygosity from data on runs of homozygosity (ROHs).

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480168	CORNING	1/pk	EUR 69.00
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Syphilis Antibody ELISA test
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Accu-Tell COVID-19 IgG/IgM Rapid Test
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Clearview Chlamydia MF test
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Test Tube rack for 40 x 1.5/2.0 ml tubes
  B2000-4-T1520	BenchMark	1 PC	EUR 137.21
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ICA (Anti-insulin cell antibody) ELISA test
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MP (Mycoplasma Pneumoniae Antibody IgG) ELISA test
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TB (Mycobacterium Tuberculosis Antibody IgG) ELISA test
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HSV-?(Herpes Simplex Virus ?AntibodyIgM) ELISA test
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HIV 1+2 Ab CE ELISA test
97	Biobase	96T/Box	Ask for price
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1-hour Dog meat adulteration ELISA test (for beef or pig meat; 96 tests)
DMT-96	Alpha Diagnostics	1 kit	EUR 834.00

Termed F(roh), this is defined as the proportion of the autosomal genome in runs of homozygosity above a specified length. Mean F(roh) distinguishes clearly between subpopulations classified in terms of grandparental endogamy and population size. With the use of good pedigree data for one of the populations (Orkney), F(roh) was found to correlate strongly with the inbreeding coefficient estimated from pedigrees (r = 0.86).

Using pedigrees to identify individuals with no shared maternal and paternal ancestors in five, and probably at least ten, generations, we show that ROHs measuring up to 4 Mb are common in demonstrably outbred individuals. Given the stochastic variation in ROH number, length, and location and the fact that ROHs are important whether ancient or recent in origin, approaches such as this will provide a more useful description of genomic autozygosity than has hitherto been possible.