Large-scale whole-genome sequencing of the Icelandic population
| Autor: | Gisli Masson, Einar Björnsson, Hrefna Johannsdottir, Hilma Holm, Bjarni Thjodleifsson, Arnaldur Gylfason, Olafur Th Magnusson, Agnar Helgason, Asmundur Oddson, Gudmundur I. Eyjolfsson, Thora Steingrimsdottir, Thora S. Gudmundsdottir, Thorunn Rafnar, Augustine Kong, Asgeir Sigurdsson, Unnur Thorsteinsdottir, Hafdis T. Helgadottir, Sigurjon A. Gudjonsson, Olof Sigurdardottir, Søren Besenbacher, Eirikur Hjartarson, Simon N. Stacey, Daniel F. Gudbjartsson, Jon G. Jonasson, Florian Zink, David O. Arnar, Jon Th. Sverrisson, Gunnlaugur Sigfússon, Kari Stefansson, Gunnar Th. Sigurdsson, Petur Ludvigsson, G. Bragi Walters, Hildur Thorarinsdottir, Isleifur Olafsson, Ásgeir Theodórs, Hakon Gudbjartsson, Sigurdur Olafsson, Gyda Bjornsdottir, Patrick Sulem, Michael L. Frigge, Solveig Gretarsdottir, Hannes Helgason, Gisli Magnusson, Jon J. Jonsson, Bjarni V. Halldorsson, Ólafur Thorarensen, Jona Saemundsdottir, Gudmundur Thorgeirsson |
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| Rok vydání: | 2014 |
| Předmět: |
Male
Risk ATP Binding Cassette Transporter Subfamily B Myosin Light Chains Hearing Loss Sensorineural Population Bulbar Palsy Progressive Iceland Thyrotropin Genome-wide association study Single-nucleotide polymorphism Biology Genome Polymorphism Single Nucleotide Frameshift mutation Receptors G-Protein-Coupled Gene Frequency INDEL Mutation Atrial Fibrillation Genetics Chromogranins GTP-Binding Protein alpha Subunits Gs Humans Genetic Predisposition to Disease education Frameshift Mutation P-Glycoproteins Allele frequency Aged Whole genome sequencing Aged 80 and over education.field_of_study Genome Human Liver Diseases Molecular Sequence Annotation Sequence Analysis DNA Middle Aged Minor allele frequency Phylogeography Female Genome-Wide Association Study |
| Zdroj: | Gudbjartsson, D F, Helgason, H, Gudjonsson, S A, Zink, F, Oddson, A, Gylfason, A, Besenbacher, S, Magnusson, G, Halldorsson, B V, Hjartarson, E, Sigurdsson, G T, Stacey, S N, Frigge, M L, Holm, H, Saemundsdottir, J, Helgadottir, H T, Johannsdottir, H, Sigfusson, G, Thorgeirsson, G, Sverrisson, J T, Gretarsdottir, S, Walters, G B, Rafnar, T, Thjodleifsson, B, Bjornsson, E S, Olafsson, S, Thorarinsdottir, H, Steingrimsdottir, T, Gudmundsdottir, T S, Theodors, A, Jonasson, J G, Sigurdsson, A, Bjornsdottir, G, Jonsson, J J, Thorarensen, O, Ludvigsson, P, Gudbjartsson, H, Eyjolfsson, G I, Sigurdardottir, O, Olafsson, I, Arnar, D O, Magnusson, O T, Kong, A, Masson, G, Thorsteinsdottir, U, Helgason, A, Sulem, P & Stefansson, K 2015, ' Large-scale whole-genome sequencing of the Icelandic population ', Nature Genetics, vol. 47, no. 5, pp. 435-44 . https://doi.org/10.1038/ng.3247 |
| ISSN: | 1546-1718 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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