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AuthorsGudbjartsson, Daniel F
Gudjonsson, Sigurjon A
Halldorsson, Bjarni V
Sigurdsson, Gunnar Th
Stacey, Simon N
Frigge, Michael L
Helgadottir, Hafdis Th
Sverrisson, Jon Th
Walters, G Bragi
Bjornsson, Einar S
Gudmundsdottir, Thora S
Jonasson, Jon G
Jonsson, Jon J
Eyjolfsson, Gudmundur I
Arnar, David O
Magnusson, Olafur Th
MetadataShow full item record
CitationNat. Genet. 2015, 47 (5):435-44
AbstractHere 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.
DescriptionTo access publisher's full text version of this article click on the hyperlink at the bottom of the page
RightsArchived with thanks to Nature genetics
- Sequence variants from whole genome sequencing a large group of Icelanders.
- Authors: Gudbjartsson DF, Sulem P, Helgason H, Gylfason A, Gudjonsson SA, Zink F, Oddson A, Magnusson G, Halldorsson BV, Hjartarson E, Sigurdsson GT, Kong A, Helgason A, Masson G, Magnusson OT, Thorsteinsdottir U, Stefansson K
- Issue date: 2015
- A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.
- Authors: Gudbjartsson DF, Holm H, Sulem P, Masson G, Oddsson A, Magnusson OT, Saemundsdottir J, Helgadottir HT, Helgason H, Johannsdottir H, Gretarsdottir S, Gudjonsson SA, Njølstad I, Løchen ML, Baum L, Ma RC, Sigfusson G, Kong A, Thorgeirsson G, Sverrisson JT, Thorsteinsdottir U, Stefansson K, Arnar DO
- Issue date: 2017 Jan 1
- Letters from Iceland.
- Issue date: 2015 May
- Rare mutations associating with serum creatinine and chronic kidney disease.
- Authors: Sveinbjornsson G, Mikaelsdottir E, Palsson R, Indridason OS, Holm H, Jonasdottir A, Helgason A, Sigurdsson S, Jonasdottir A, Sigurdsson A, Eyjolfsson GI, Sigurdardottir O, Magnusson OT, Kong A, Masson G, Sulem P, Olafsson I, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K
- Issue date: 2014 Dec 20
- Deep sequencing of Danish Holstein dairy cattle for variant detection and insight into potential loss-of-function variants in protein coding genes.
- Authors: Das A, Panitz F, Gregersen VR, Bendixen C, Holm LE
- Issue date: 2015 Dec 9