Large-scale whole-genome sequencing of the Icelandic population.
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- Authors
- 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
- Year
- 2015
- Journal
- Nature genetics
- PMID
- 25807286
- DOI
- 10.1038/ng.3247
Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20Γ. 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.
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| Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency. | Runolfsdottir HL et al. | β | 2021 | β |
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| The mother's risk of premature death after child loss across two centuries. | ValdimarsdΓ³ttir UA et al. | β | 2019 | β |
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| Effect of sequence variants on variance in glucose levels predicts type 2 diabetes risk and accounts for heritability. | Ivarsdottir EV et al. | β | 2017 | β |
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| A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. | Rivas MA et al. | β | 2016 | β |
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| Genomic analyses inform on migration events during the peopling of Eurasia. | Pagani L et al. | β | 2016 | β |
| GORpipe: a query tool for working with sequence data based on a Genomic Ordered Relational (GOR) architecture. | GuΓ°bjartsson H et al. | β | 2016 | β |
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| Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility. | Mbarek H et al. | β | 2016 | β |
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| The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences. | Xue C et al. | β | 2016 | β |
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| Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland. | Styrkarsdottir U et al. | β | 2016 | β |
| Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease. | Nioi P et al. | β | 2016 | β |
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| Applications of comparative evolution to human disease genetics. | McWhite CD et al. | β | 2015 | β |
| A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease. | Gretarsdottir S et al. | β | 2015 | β |
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| Inhibition of MDR3 Activity in Human Hepatocytes by Drugs Associated with Liver Injury. | He K et al. | β | 2015 | β |
| Loss-of-function variants in ATM confer risk of gastric cancer. | Helgason H et al. | β | 2015 | β |
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| Suppression Subtractive Hybridization Versus Next-Generation Sequencing in Plant Genetic Engineering: Challenges and Perspectives. | Sahebi M et al. | β | 2015 | β |
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| Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. | Swaminathan B et al. | β | 2015 | β |
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