The sequences of 150,119 genomes in the UK biobank

Halldorsson, B. V.; Eggertsson, H. P.; Moore, K. H. S.; Hauswedell, H.; Eiriksson, O.; Ulfarsson, M. O.; Palsson, G.; Hardarson, M. T.; Oddsson, A.; Jensson, B. O.; Kristmundsdottir, S.; Sigurpalsdottir, B. D.; Stefansson, O. A.; Beyter, D.; Holley, G.; Tragante, V.; Gylfason, A.; Olason, P. I.; Zink, F.; Asgeirsdottir, M.; Sverrisson, S. T.; Sigurdsson, B.; Gudjonsson, S. A.; Sigurdsson, G. T.; Halldorsson, G. H.; Sveinbjornsson, G.; Norland, K.; Styrkarsdottir, U.; Magnusdottir, D. N.; Snorradottir, S.; Kristinsson, K.; Sobech, E.; Thorleifsson, G.; Jonsson, F.; Melsted, P.; Jonsdottir, I.

doi:10.1101/2021.11.16.468246

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bioRxiv · 10.1101/2021.11.16.468246

The sequences of 150,119 genomes in the UK biobank

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Abstract

We describe the analysis of whole genome sequences (WGS) of 150,119 individuals from the UK biobank (UKB). This constitutes a set of high quality variants, including 585,040,410 SNPs, representing 7.0% of all possible human SNPs, and 58,707,036 indels. The large set of variants allows us to characterize selection based on sequence variation within a population through a Depletion Rank (DR) score for windows along the genome. DR analysis shows that coding exons represent a small fraction of regions in the genome subject to strong sequence conservation. We define three cohorts within the UKB, a large British Irish cohort (XBI) and smaller African (XAF) and South Asian (XSA) cohorts. A haplotype reference panel is provided that allows reliable imputation of most variants carried by three or more sequenced individuals. We identified 895,055 structural variants and 2,536,688 microsatellites, groups of variants typically excluded from large scale WGS studies. Using this formidable new resource, we provide several examples of trait associations for rare variants with large effects not found previously through studies based on exome sequencing and/or imputation.

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Halldorsson, B. V., Eggertsson, H. P., Moore, K. H. S., Hauswedell, H., Eiriksson, O., Ulfarsson, M. O., Palsson, G., Hardarson, M. T., Oddsson, A., Jensson, B. O., Kristmundsdottir, S., Sigurpalsdottir, B. D., Stefansson, O. A., Beyter, D., Holley, G., Tragante, V., Gylfason, A., Olason, P. I., Zink, F., Asgeirsdottir, M., Sverrisson, S. T., Sigurdsson, B., Gudjonsson, S. A., Sigurdsson, G. T., Halldorsson, G. H., Sveinbjornsson, G., Norland, K., Styrkarsdottir, U., Magnusdottir, D. N., Snorradottir, S., Kristinsson, K., Sobech, E., Thorleifsson, G., Jonsson, F., Melsted, P., Jonsdottir, I.. 2021-11-17. The sequences of 150,119 genomes in the UK biobank. https://doi.org/10.1101/2021.11.16.468246

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