Large-scale whole-genome sequencing of the Icelandic population
Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (indels). We describe the density and frequency spectra of sequence variants in relation to their functional annotation,...
Published in: | Nature Genetics |
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2015
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Online Access: | https://pure.au.dk/portal/da/publications/largescale-wholegenome-sequencing-of-the-icelandic-population(b835f17f-788b-43b0-ba06-433634bf6a52).html https://doi.org/10.1038/ng.3247 |
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ftuniaarhuspubl:oai:pure.atira.dk:publications/b835f17f-788b-43b0-ba06-433634bf6a52 2023-05-15T16:47:59+02:00 Large-scale whole-genome sequencing of the Icelandic population Gudbjartsson, Daniel F Helgason, Hannes Gudjonsson, Sigurjon A Zink, Florian Oddson, Asmundur Gylfason, Arnaldur Besenbacher, Soren Magnusson, Gisli Halldorsson, Bjarni V Hjartarson, Eirikur Sigurdsson, Gunnar Th Stacey, Simon N Frigge, Michael L Holm, Hilma Saemundsdottir, Jona Helgadottir, Hafdis Th Johannsdottir, Hrefna Sigfusson, Gunnlaugur Thorgeirsson, Gudmundur Sverrisson, Jon Th Gretarsdottir, Solveig Walters, G Bragi Rafnar, Thorunn Thjodleifsson, Bjarni Bjornsson, Einar S Olafsson, Sigurdur Thorarinsdottir, Hildur Steingrimsdottir, Thora Gudmundsdottir, Thora S Theodors, Asgeir Jonasson, Jon G Sigurdsson, Asgeir Bjornsdottir, Gyda Jonsson, Jon J Thorarensen, Olafur Ludvigsson, Petur Gudbjartsson, Hakon Eyjolfsson, Gudmundur I Sigurdardottir, Olof Olafsson, Isleifur Arnar, David O Magnusson, Olafur Th Kong, Augustine Masson, Gisli Thorsteinsdottir, Unnur Helgason, Agnar Sulem, Patrick Stefansson, Kari 2015-05 https://pure.au.dk/portal/da/publications/largescale-wholegenome-sequencing-of-the-icelandic-population(b835f17f-788b-43b0-ba06-433634bf6a52).html https://doi.org/10.1038/ng.3247 eng eng info:eu-repo/semantics/restrictedAccess Gudbjartsson , D F , Helgason , H , Gudjonsson , S A , Zink , F , Oddson , A , Gylfason , A , Besenbacher , S , Magnusson , G , Halldorsson , B V , Hjartarson , E , Sigurdsson , G T , Stacey , S N , Frigge , M L , Holm , H , Saemundsdottir , J , Helgadottir , H T , Johannsdottir , H , Sigfusson , G , Thorgeirsson , G , Sverrisson , J T , Gretarsdottir , S , Walters , G B , Rafnar , T , Thjodleifsson , B , Bjornsson , E S , Olafsson , S , Thorarinsdottir , H , Steingrimsdottir , T , Gudmundsdottir , T S , Theodors , A , Jonasson , J G , Sigurdsson , A , Bjornsdottir , G , Jonsson , J J , Thorarensen , O , Ludvigsson , P , Gudbjartsson , H , Eyjolfsson , G I , Sigurdardottir , O , Olafsson , I , Arnar , D O , Magnusson , O T , Kong , A , Masson , G , Thorsteinsdottir , U , Helgason , A , Sulem , P & Stefansson , K 2015 , ' Large-scale whole-genome sequencing of the Icelandic population ' , Nature Genetics , vol. 47 , no. 5 , pp. 435-44 . https://doi.org/10.1038/ng.3247 Aged 80 and over Atrial Fibrillation Bulbar Palsy Progressive Female Frameshift Mutation GTP-Binding Protein alpha Subunits Gs Gene Frequency Genetic Predisposition to Disease Genome Human Genome-Wide Association Study Hearing Loss Sensorineural Humans INDEL Mutation Iceland Liver Diseases Male Middle Aged Molecular Sequence Annotation Myosin Light Chains P-Glycoproteins Phylogeography Polymorphism Single Nucleotide Receptors G-Protein-Coupled Risk Sequence Analysis DNA Thyrotropin article 2015 ftuniaarhuspubl https://doi.org/10.1038/ng.3247 2020-07-18T21:45:54Z Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (indels). We describe the density and frequency spectra of sequence variants in relation to their functional annotation, gene position, pathway and conservation score. We demonstrate an excess of homozygosity and rare protein-coding variants in Iceland. We imputed these variants into 104,220 individuals down to a minor allele frequency of 0.1% and found a recessive frameshift mutation in MYL4 that causes early-onset atrial fibrillation, several mutations in ABCB4 that increase risk of liver diseases and an intronic variant in GNAS associating with increased thyroid-stimulating hormone levels when maternally inherited. These data provide a study design that can be used to determine how variation in the sequence of the human genome gives rise to human diversity. Article in Journal/Newspaper Iceland Aarhus University: Research Indel’ ENVELOPE(35.282,35.282,66.963,66.963) Nature Genetics 47 5 435 444 |
institution |
Open Polar |
collection |
Aarhus University: Research |
op_collection_id |
ftuniaarhuspubl |
language |
English |
topic |
Aged 80 and over Atrial Fibrillation Bulbar Palsy Progressive Female Frameshift Mutation GTP-Binding Protein alpha Subunits Gs Gene Frequency Genetic Predisposition to Disease Genome Human Genome-Wide Association Study Hearing Loss Sensorineural Humans INDEL Mutation Iceland Liver Diseases Male Middle Aged Molecular Sequence Annotation Myosin Light Chains P-Glycoproteins Phylogeography Polymorphism Single Nucleotide Receptors G-Protein-Coupled Risk Sequence Analysis DNA Thyrotropin |
spellingShingle |
Aged 80 and over Atrial Fibrillation Bulbar Palsy Progressive Female Frameshift Mutation GTP-Binding Protein alpha Subunits Gs Gene Frequency Genetic Predisposition to Disease Genome Human Genome-Wide Association Study Hearing Loss Sensorineural Humans INDEL Mutation Iceland Liver Diseases Male Middle Aged Molecular Sequence Annotation Myosin Light Chains P-Glycoproteins Phylogeography Polymorphism Single Nucleotide Receptors G-Protein-Coupled Risk Sequence Analysis DNA Thyrotropin Gudbjartsson, Daniel F Helgason, Hannes Gudjonsson, Sigurjon A Zink, Florian Oddson, Asmundur Gylfason, Arnaldur Besenbacher, Soren Magnusson, Gisli Halldorsson, Bjarni V Hjartarson, Eirikur Sigurdsson, Gunnar Th Stacey, Simon N Frigge, Michael L Holm, Hilma Saemundsdottir, Jona Helgadottir, Hafdis Th Johannsdottir, Hrefna Sigfusson, Gunnlaugur Thorgeirsson, Gudmundur Sverrisson, Jon Th Gretarsdottir, Solveig Walters, G Bragi Rafnar, Thorunn Thjodleifsson, Bjarni Bjornsson, Einar S Olafsson, Sigurdur Thorarinsdottir, Hildur Steingrimsdottir, Thora Gudmundsdottir, Thora S Theodors, Asgeir Jonasson, Jon G Sigurdsson, Asgeir Bjornsdottir, Gyda Jonsson, Jon J Thorarensen, Olafur Ludvigsson, Petur Gudbjartsson, Hakon Eyjolfsson, Gudmundur I Sigurdardottir, Olof Olafsson, Isleifur Arnar, David O Magnusson, Olafur Th Kong, Augustine Masson, Gisli Thorsteinsdottir, Unnur Helgason, Agnar Sulem, Patrick Stefansson, Kari Large-scale whole-genome sequencing of the Icelandic population |
topic_facet |
Aged 80 and over Atrial Fibrillation Bulbar Palsy Progressive Female Frameshift Mutation GTP-Binding Protein alpha Subunits Gs Gene Frequency Genetic Predisposition to Disease Genome Human Genome-Wide Association Study Hearing Loss Sensorineural Humans INDEL Mutation Iceland Liver Diseases Male Middle Aged Molecular Sequence Annotation Myosin Light Chains P-Glycoproteins Phylogeography Polymorphism Single Nucleotide Receptors G-Protein-Coupled Risk Sequence Analysis DNA Thyrotropin |
description |
Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (indels). We describe the density and frequency spectra of sequence variants in relation to their functional annotation, gene position, pathway and conservation score. We demonstrate an excess of homozygosity and rare protein-coding variants in Iceland. We imputed these variants into 104,220 individuals down to a minor allele frequency of 0.1% and found a recessive frameshift mutation in MYL4 that causes early-onset atrial fibrillation, several mutations in ABCB4 that increase risk of liver diseases and an intronic variant in GNAS associating with increased thyroid-stimulating hormone levels when maternally inherited. These data provide a study design that can be used to determine how variation in the sequence of the human genome gives rise to human diversity. |
format |
Article in Journal/Newspaper |
author |
Gudbjartsson, Daniel F Helgason, Hannes Gudjonsson, Sigurjon A Zink, Florian Oddson, Asmundur Gylfason, Arnaldur Besenbacher, Soren Magnusson, Gisli Halldorsson, Bjarni V Hjartarson, Eirikur Sigurdsson, Gunnar Th Stacey, Simon N Frigge, Michael L Holm, Hilma Saemundsdottir, Jona Helgadottir, Hafdis Th Johannsdottir, Hrefna Sigfusson, Gunnlaugur Thorgeirsson, Gudmundur Sverrisson, Jon Th Gretarsdottir, Solveig Walters, G Bragi Rafnar, Thorunn Thjodleifsson, Bjarni Bjornsson, Einar S Olafsson, Sigurdur Thorarinsdottir, Hildur Steingrimsdottir, Thora Gudmundsdottir, Thora S Theodors, Asgeir Jonasson, Jon G Sigurdsson, Asgeir Bjornsdottir, Gyda Jonsson, Jon J Thorarensen, Olafur Ludvigsson, Petur Gudbjartsson, Hakon Eyjolfsson, Gudmundur I Sigurdardottir, Olof Olafsson, Isleifur Arnar, David O Magnusson, Olafur Th Kong, Augustine Masson, Gisli Thorsteinsdottir, Unnur Helgason, Agnar Sulem, Patrick Stefansson, Kari |
author_facet |
Gudbjartsson, Daniel F Helgason, Hannes Gudjonsson, Sigurjon A Zink, Florian Oddson, Asmundur Gylfason, Arnaldur Besenbacher, Soren Magnusson, Gisli Halldorsson, Bjarni V Hjartarson, Eirikur Sigurdsson, Gunnar Th Stacey, Simon N Frigge, Michael L Holm, Hilma Saemundsdottir, Jona Helgadottir, Hafdis Th Johannsdottir, Hrefna Sigfusson, Gunnlaugur Thorgeirsson, Gudmundur Sverrisson, Jon Th Gretarsdottir, Solveig Walters, G Bragi Rafnar, Thorunn Thjodleifsson, Bjarni Bjornsson, Einar S Olafsson, Sigurdur Thorarinsdottir, Hildur Steingrimsdottir, Thora Gudmundsdottir, Thora S Theodors, Asgeir Jonasson, Jon G Sigurdsson, Asgeir Bjornsdottir, Gyda Jonsson, Jon J Thorarensen, Olafur Ludvigsson, Petur Gudbjartsson, Hakon Eyjolfsson, Gudmundur I Sigurdardottir, Olof Olafsson, Isleifur Arnar, David O Magnusson, Olafur Th Kong, Augustine Masson, Gisli Thorsteinsdottir, Unnur Helgason, Agnar Sulem, Patrick Stefansson, Kari |
author_sort |
Gudbjartsson, Daniel F |
title |
Large-scale whole-genome sequencing of the Icelandic population |
title_short |
Large-scale whole-genome sequencing of the Icelandic population |
title_full |
Large-scale whole-genome sequencing of the Icelandic population |
title_fullStr |
Large-scale whole-genome sequencing of the Icelandic population |
title_full_unstemmed |
Large-scale whole-genome sequencing of the Icelandic population |
title_sort |
large-scale whole-genome sequencing of the icelandic population |
publishDate |
2015 |
url |
https://pure.au.dk/portal/da/publications/largescale-wholegenome-sequencing-of-the-icelandic-population(b835f17f-788b-43b0-ba06-433634bf6a52).html https://doi.org/10.1038/ng.3247 |
long_lat |
ENVELOPE(35.282,35.282,66.963,66.963) |
geographic |
Indel’ |
geographic_facet |
Indel’ |
genre |
Iceland |
genre_facet |
Iceland |
op_source |
Gudbjartsson , D F , Helgason , H , Gudjonsson , S A , Zink , F , Oddson , A , Gylfason , A , Besenbacher , S , Magnusson , G , Halldorsson , B V , Hjartarson , E , Sigurdsson , G T , Stacey , S N , Frigge , M L , Holm , H , Saemundsdottir , J , Helgadottir , H T , Johannsdottir , H , Sigfusson , G , Thorgeirsson , G , Sverrisson , J T , Gretarsdottir , S , Walters , G B , Rafnar , T , Thjodleifsson , B , Bjornsson , E S , Olafsson , S , Thorarinsdottir , H , Steingrimsdottir , T , Gudmundsdottir , T S , Theodors , A , Jonasson , J G , Sigurdsson , A , Bjornsdottir , G , Jonsson , J J , Thorarensen , O , Ludvigsson , P , Gudbjartsson , H , Eyjolfsson , G I , Sigurdardottir , O , Olafsson , I , Arnar , D O , Magnusson , O T , Kong , A , Masson , G , Thorsteinsdottir , U , Helgason , A , Sulem , P & Stefansson , K 2015 , ' Large-scale whole-genome sequencing of the Icelandic population ' , Nature Genetics , vol. 47 , no. 5 , pp. 435-44 . https://doi.org/10.1038/ng.3247 |
op_rights |
info:eu-repo/semantics/restrictedAccess |
op_doi |
https://doi.org/10.1038/ng.3247 |
container_title |
Nature Genetics |
container_volume |
47 |
container_issue |
5 |
container_start_page |
435 |
op_container_end_page |
444 |
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1766038084272521216 |