Large-scale whole-genome sequencing of the Icelandic population View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-05

AUTHORS

Daniel F Gudbjartsson, Hannes Helgason, Sigurjon A Gudjonsson, Florian Zink, Asmundur Oddson, Arnaldur Gylfason, Soren Besenbacher, Gisli Magnusson, Bjarni V Halldorsson, Eirikur Hjartarson, Gunnar Th Sigurdsson, Simon N Stacey, Michael L Frigge, Hilma Holm, Jona Saemundsdottir, Hafdis Th Helgadottir, Hrefna Johannsdottir, Gunnlaugur Sigfusson, Gudmundur Thorgeirsson, Jon Th Sverrisson, Solveig Gretarsdottir, G Bragi Walters, Thorunn Rafnar, Bjarni Thjodleifsson, Einar S Bjornsson, Sigurdur Olafsson, Hildur Thorarinsdottir, Thora Steingrimsdottir, Thora S Gudmundsdottir, Asgeir Theodors, Jon G Jonasson, Asgeir Sigurdsson, Gyda Bjornsdottir, Jon J Jonsson, Olafur Thorarensen, Petur Ludvigsson, Hakon Gudbjartsson, Gudmundur I Eyjolfsson, Olof Sigurdardottir, Isleifur Olafsson, David O Arnar, Olafur Th Magnusson, Augustine Kong, Gisli Masson, Unnur Thorsteinsdottir, Agnar Helgason, Patrick Sulem, Kari Stefansson

ABSTRACT

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. More... »

PAGES

435-444

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.3247

    DOI

    http://dx.doi.org/10.1038/ng.3247

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1020692466

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25807286


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