%0 Journal Article %1 gudbjartsson2015largescale %A Gudbjartsson, Daniel F %A Helgason, Hannes %A Gudjonsson, Sigurjon A %A Zink, Florian %A Oddson, Asmundur %A Gylfason, Arnaldur %A Besenbacher, Soren %A Magnusson, Gisli %A Halldorsson, Bjarni V %A Hjartarson, Eirikur %A Sigurdsson, Gunnar Th %A Stacey, Simon N %A Frigge, Michael L %A Holm, Hilma %A Saemundsdottir, Jona %A Helgadottir, Hafdis Th %A Johannsdottir, Hrefna %A Sigfusson, Gunnlaugur %A Thorgeirsson, Gudmundur %A Sverrisson, Jon Th %A Gretarsdottir, Solveig %A Walters, G Bragi %A Rafnar, Thorunn %A Thjodleifsson, Bjarni %A Bjornsson, Einar S %A Olafsson, Sigurdur %A Thorarinsdottir, Hildur %A Steingrimsdottir, Thora %A Gudmundsdottir, Thora S %A Theodors, Asgeir %A Jonasson, Jon G %A Sigurdsson, Asgeir %A Bjornsdottir, Gyda %A Jonsson, Jon J %A Thorarensen, Olafur %A Ludvigsson, Petur %A Gudbjartsson, Hakon %A Eyjolfsson, Gudmundur I %A Sigurdardottir, Olof %A Olafsson, Isleifur %A Arnar, David O %A Magnusson, Olafur Th %A Kong, Augustine %A Masson, Gisli %A Thorsteinsdottir, Unnur %A Helgason, Agnar %A Sulem, Patrick %A Stefansson, Kari %D 2015 %I Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. %J Nat Genet %K deleterious_alleles human_genome iceland indels linked_selection %T Large-scale whole-genome sequencing of the Icelandic population %U http://dx.doi.org/10.1038/ng.3247 %V advance online publication %X Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20times. 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{gudbjartsson2015largescale, abstract = {Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20[times]. 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.}, added-at = {2015-04-01T17:53:19.000+0200}, author = {Gudbjartsson, Daniel F and Helgason, Hannes and Gudjonsson, Sigurjon A and Zink, Florian and Oddson, Asmundur and Gylfason, Arnaldur and Besenbacher, Soren and Magnusson, Gisli and Halldorsson, Bjarni V and Hjartarson, Eirikur and Sigurdsson, Gunnar Th and Stacey, Simon N and Frigge, Michael L and Holm, Hilma and Saemundsdottir, Jona and Helgadottir, Hafdis Th and Johannsdottir, Hrefna and Sigfusson, Gunnlaugur and Thorgeirsson, Gudmundur and Sverrisson, Jon Th and Gretarsdottir, Solveig and Walters, G Bragi and Rafnar, Thorunn and Thjodleifsson, Bjarni and Bjornsson, Einar S and Olafsson, Sigurdur and Thorarinsdottir, Hildur and Steingrimsdottir, Thora and Gudmundsdottir, Thora S and Theodors, Asgeir and Jonasson, Jon G and Sigurdsson, Asgeir and Bjornsdottir, Gyda and Jonsson, Jon J and Thorarensen, Olafur and Ludvigsson, Petur and Gudbjartsson, Hakon and Eyjolfsson, Gudmundur I and Sigurdardottir, Olof and Olafsson, Isleifur and Arnar, David O and Magnusson, Olafur Th and Kong, Augustine and Masson, Gisli and Thorsteinsdottir, Unnur and Helgason, Agnar and Sulem, Patrick and Stefansson, Kari}, biburl = {https://www.bibsonomy.org/bibtex/231d812a6c9845e85cf8f4856103ef1ae/peter.ralph}, interhash = {dccc10439d43912c8578ccfdc070889a}, intrahash = {31d812a6c9845e85cf8f4856103ef1ae}, issn = {15461718}, journal = {Nat Genet}, keywords = {deleterious_alleles human_genome iceland indels linked_selection}, month = mar, publisher = {Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.}, timestamp = {2015-04-01T17:53:19.000+0200}, title = {Large-scale whole-genome sequencing of the {Icelandic} population}, url = {http://dx.doi.org/10.1038/ng.3247}, volume = {advance online publication}, year = 2015 }