Article
Large-scale whole-genome sequencing of the Icelandic population.
Nature genetics - 1 May 2015
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
Abstract excerpt
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...
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