Abstract
BackgroundRuns of Homozygosity (ROH) are genomic regions where identical haplotypes are inherited from each parent. Since their first detection due to technological advances in the late 1990s, ROHs have been shedding light on human population history and deciphering the genetic basis of monogenic and complex traits and diseases. ROH studies have predominantly exploited SNP array data, but are gradually moving to whole genome sequence (WGS) data as it becomes available. WGS data, covering more genetic variability, can add value to ROH studies, but require additional considerations during analysis.ResultsUsing SNP array and low coverage WGS data from 1885 individuals from 20 world populations, our aims were to compare ROH from the two datasets and to establish software conditions to get comparable results, thus providing guidelines for combining disparate datasets in joint ROH analyses. By allowing heterozygous SNPs per window, using the PLINK homozygosity function and non-parametric analysis, we were able to obtain non-significant differences in number ROH, mean ROH size and total sum of ROH between data sets using the different technologies for almost all populations.ConclusionsBy allowing 3 heterozygous SNPs per ROH when dealing with WGS low coverage data, it is possible to establish meaningful comparisons between data using SNP array and WGS low coverage technologies.
Highlights
Runs of Homozygosity (ROH) are genomic regions where identical haplotypes are inherited from each parent
ROH were found to be ubiquitous even in outbred populations; we are all inbred to some degree and ROH captures this aspect of our individual demographic histories [2–5]
To assess the error rate in heterozygote calling in the whole genome sequence (WGS), the percentage of concordance in the variant calling between the array and the WGS data, is shown for every population studied (Table 1)
Summary
Runs of Homozygosity (ROH) are genomic regions where identical haplotypes are inherited from each parent. Since their first detection due to technological advances in the late 1990s, ROHs have been shedding light on human population history and deciphering the genetic basis of monogenic and complex traits and diseases. ROH studies have predominantly exploited SNP array data, but are gradually moving to whole genome sequence (WGS) data as it becomes available. WGS data, covering more genetic variability, can add value to ROH studies, but require additional considerations during analysis. Runs of Homozygosity (ROH) are contiguous regions of the genome where an individual is homozygous across all sites. ROH arise when two copies of an ancestral haplotype are brought together in an individual. ROH were found to be ubiquitous even in outbred populations; we are all inbred to some degree and ROH captures this aspect of our individual demographic histories [2–5]
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