The sequences of 150,119 genomes in the UK Biobank

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

The sequences of 150,119 genomes in the UK Biobank. / Halldorsson, Bjarni V.; Eggertsson, Hannes P.; Moore, Kristjan H.S.; Hauswedell, Hannes; Eiriksson, Ogmundur; Ulfarsson, Magnus O.; Palsson, Gunnar; Hardarson, Marteinn T.; Oddsson, Asmundur; Jensson, Brynjar O.; Kristmundsdottir, Snaedis; Sigurpalsdottir, Brynja D.; Stefansson, Olafur A.; Beyter, Doruk; Holley, Guillaume; Tragante, Vinicius; Gylfason, Arnaldur; Olason, Pall I.; Zink, Florian; Asgeirsdottir, Margret; Sverrisson, Sverrir T.; Sigurdsson, Brynjar; Gudjonsson, Sigurjon A.; Sigurdsson, Gunnar T.; Halldorsson, Gisli H.; Sveinbjornsson, Gardar; Norland, Kristjan; Styrkarsdottir, Unnur; Magnusdottir, Droplaug N.; Snorradottir, Steinunn; Kristinsson, Kari; Sobech, Emilia; Pedersen, Ole Birger; Brunak, Søren; Ostrowski, Sisse Rye; Banasik, Karina; Burgdorf, Kristoffer; Didriksen, Maria; Hansen, Thomas Folkmann; Hjalgrim, Henrik; Jemec, Gregor; Jennum, Poul; Johansson, Pär Ingemar; Ostrowski, Sisse Rye; Ullum, Henrik; Werge, Thomas; DBDS Genetic Consortium.

In: Nature, Vol. 607, 2022.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Halldorsson, BV, Eggertsson, HP, Moore, KHS, Hauswedell, H, Eiriksson, O, Ulfarsson, MO, Palsson, G, Hardarson, MT, Oddsson, A, Jensson, BO, Kristmundsdottir, S, Sigurpalsdottir, BD, Stefansson, OA, Beyter, D, Holley, G, Tragante, V, Gylfason, A, Olason, PI, Zink, F, Asgeirsdottir, M, Sverrisson, ST, Sigurdsson, B, Gudjonsson, SA, Sigurdsson, GT, Halldorsson, GH, Sveinbjornsson, G, Norland, K, Styrkarsdottir, U, Magnusdottir, DN, Snorradottir, S, Kristinsson, K, Sobech, E, Pedersen, OB, Brunak, S, Ostrowski, SR, Banasik, K, Burgdorf, K, Didriksen, M, Hansen, TF, Hjalgrim, H, Jemec, G, Jennum, P, Johansson, PI, Ostrowski, SR, Ullum, H, Werge, T & DBDS Genetic Consortium 2022, 'The sequences of 150,119 genomes in the UK Biobank', Nature, vol. 607. https://doi.org/10.1038/s41586-022-04965-x

APA

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., ... DBDS Genetic Consortium (2022). The sequences of 150,119 genomes in the UK Biobank. Nature, 607. https://doi.org/10.1038/s41586-022-04965-x

Vancouver

Halldorsson BV, Eggertsson HP, Moore KHS, Hauswedell H, Eiriksson O, Ulfarsson MO et al. The sequences of 150,119 genomes in the UK Biobank. Nature. 2022;607. https://doi.org/10.1038/s41586-022-04965-x

Author

Halldorsson, Bjarni V. ; Eggertsson, Hannes P. ; Moore, Kristjan H.S. ; Hauswedell, Hannes ; Eiriksson, Ogmundur ; Ulfarsson, Magnus O. ; Palsson, Gunnar ; Hardarson, Marteinn T. ; Oddsson, Asmundur ; Jensson, Brynjar O. ; Kristmundsdottir, Snaedis ; Sigurpalsdottir, Brynja D. ; Stefansson, Olafur A. ; Beyter, Doruk ; Holley, Guillaume ; Tragante, Vinicius ; Gylfason, Arnaldur ; Olason, Pall I. ; Zink, Florian ; Asgeirsdottir, Margret ; Sverrisson, Sverrir T. ; Sigurdsson, Brynjar ; Gudjonsson, Sigurjon A. ; Sigurdsson, Gunnar T. ; Halldorsson, Gisli H. ; Sveinbjornsson, Gardar ; Norland, Kristjan ; Styrkarsdottir, Unnur ; Magnusdottir, Droplaug N. ; Snorradottir, Steinunn ; Kristinsson, Kari ; Sobech, Emilia ; Pedersen, Ole Birger ; Brunak, Søren ; Ostrowski, Sisse Rye ; Banasik, Karina ; Burgdorf, Kristoffer ; Didriksen, Maria ; Hansen, Thomas Folkmann ; Hjalgrim, Henrik ; Jemec, Gregor ; Jennum, Poul ; Johansson, Pär Ingemar ; Ostrowski, Sisse Rye ; Ullum, Henrik ; Werge, Thomas ; DBDS Genetic Consortium. / The sequences of 150,119 genomes in the UK Biobank. In: Nature. 2022 ; Vol. 607.

Bibtex

@article{9f78e8ee43144222850a245b66a9daa4,
title = "The sequences of 150,119 genomes in the UK Biobank",
abstract = "Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over the past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome sequencing of large cohorts with rich phenotypic data1,2. Here we describe the analysis of whole-genome sequencing of 150,119 individuals from the UK Biobank3. This constitutes a set of high-quality variants, including 585,040,410 single-nucleotide polymorphisms, representing 7.0% of all possible human single-nucleotide polymorphisms, and 58,707,036 indels. This large set of variants allows us to characterize selection based on sequence variation within a population through a depletion rank score of windows along the genome. Depletion rank 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 UK Biobank: a large British Irish cohort, a smaller African cohort and a South Asian cohort. 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 whole-genome sequencing 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 whole-exome sequencing and/or imputation.",
author = "Halldorsson, {Bjarni V.} and Eggertsson, {Hannes P.} and Moore, {Kristjan H.S.} and Hannes Hauswedell and Ogmundur Eiriksson and Ulfarsson, {Magnus O.} and Gunnar Palsson and Hardarson, {Marteinn T.} and Asmundur Oddsson and Jensson, {Brynjar O.} and Snaedis Kristmundsdottir and Sigurpalsdottir, {Brynja D.} and Stefansson, {Olafur A.} and Doruk Beyter and Guillaume Holley and Vinicius Tragante and Arnaldur Gylfason and Olason, {Pall I.} and Florian Zink and Margret Asgeirsdottir and Sverrisson, {Sverrir T.} and Brynjar Sigurdsson and Gudjonsson, {Sigurjon A.} and Sigurdsson, {Gunnar T.} and Halldorsson, {Gisli H.} and Gardar Sveinbjornsson and Kristjan Norland and Unnur Styrkarsdottir and Magnusdottir, {Droplaug N.} and Steinunn Snorradottir and Kari Kristinsson and Emilia Sobech and Pedersen, {Ole Birger} and S{\o}ren Brunak and Ostrowski, {Sisse Rye} and Karina Banasik and Kristoffer Burgdorf and Maria Didriksen and Hansen, {Thomas Folkmann} and Henrik Hjalgrim and Gregor Jemec and Poul Jennum and Johansson, {P{\"a}r Ingemar} and Ostrowski, {Sisse Rye} and Henrik Ullum and Thomas Werge and {DBDS Genetic Consortium}",
note = "Publisher Copyright: {\textcopyright} 2022, The Author(s).",
year = "2022",
doi = "10.1038/s41586-022-04965-x",
language = "English",
volume = "607",
journal = "Nature",
issn = "0028-0836",
publisher = "nature publishing group",

}

RIS

TY - JOUR

T1 - The sequences of 150,119 genomes in the UK Biobank

AU - Halldorsson, Bjarni V.

AU - Eggertsson, Hannes P.

AU - Moore, Kristjan H.S.

AU - Hauswedell, Hannes

AU - Eiriksson, Ogmundur

AU - Ulfarsson, Magnus O.

AU - Palsson, Gunnar

AU - Hardarson, Marteinn T.

AU - Oddsson, Asmundur

AU - Jensson, Brynjar O.

AU - Kristmundsdottir, Snaedis

AU - Sigurpalsdottir, Brynja D.

AU - Stefansson, Olafur A.

AU - Beyter, Doruk

AU - Holley, Guillaume

AU - Tragante, Vinicius

AU - Gylfason, Arnaldur

AU - Olason, Pall I.

AU - Zink, Florian

AU - Asgeirsdottir, Margret

AU - Sverrisson, Sverrir T.

AU - Sigurdsson, Brynjar

AU - Gudjonsson, Sigurjon A.

AU - Sigurdsson, Gunnar T.

AU - Halldorsson, Gisli H.

AU - Sveinbjornsson, Gardar

AU - Norland, Kristjan

AU - Styrkarsdottir, Unnur

AU - Magnusdottir, Droplaug N.

AU - Snorradottir, Steinunn

AU - Kristinsson, Kari

AU - Sobech, Emilia

AU - Pedersen, Ole Birger

AU - Brunak, Søren

AU - Ostrowski, Sisse Rye

AU - Banasik, Karina

AU - Burgdorf, Kristoffer

AU - Didriksen, Maria

AU - Hansen, Thomas Folkmann

AU - Hjalgrim, Henrik

AU - Jemec, Gregor

AU - Jennum, Poul

AU - Johansson, Pär Ingemar

AU - Ostrowski, Sisse Rye

AU - Ullum, Henrik

AU - Werge, Thomas

AU - DBDS Genetic Consortium

N1 - Publisher Copyright: © 2022, The Author(s).

PY - 2022

Y1 - 2022

N2 - Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over the past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome sequencing of large cohorts with rich phenotypic data1,2. Here we describe the analysis of whole-genome sequencing of 150,119 individuals from the UK Biobank3. This constitutes a set of high-quality variants, including 585,040,410 single-nucleotide polymorphisms, representing 7.0% of all possible human single-nucleotide polymorphisms, and 58,707,036 indels. This large set of variants allows us to characterize selection based on sequence variation within a population through a depletion rank score of windows along the genome. Depletion rank 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 UK Biobank: a large British Irish cohort, a smaller African cohort and a South Asian cohort. 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 whole-genome sequencing 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 whole-exome sequencing and/or imputation.

AB - Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over the past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome sequencing of large cohorts with rich phenotypic data1,2. Here we describe the analysis of whole-genome sequencing of 150,119 individuals from the UK Biobank3. This constitutes a set of high-quality variants, including 585,040,410 single-nucleotide polymorphisms, representing 7.0% of all possible human single-nucleotide polymorphisms, and 58,707,036 indels. This large set of variants allows us to characterize selection based on sequence variation within a population through a depletion rank score of windows along the genome. Depletion rank 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 UK Biobank: a large British Irish cohort, a smaller African cohort and a South Asian cohort. 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 whole-genome sequencing 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 whole-exome sequencing and/or imputation.

U2 - 10.1038/s41586-022-04965-x

DO - 10.1038/s41586-022-04965-x

M3 - Journal article

C2 - 35859178

AN - SCOPUS:85134541905

VL - 607

JO - Nature

JF - Nature

SN - 0028-0836

ER -

ID: 315165655