The sequences of 150,119 genomes in the UK Biobank

• Published in: Nature (London) Vol. 607; no. 7920; pp. 732 - 740
• Main Authors: Halldorsson, Bjarni V., Eggertsson, Hannes P., Moore, Kristjan H. S., Hauswedell, Hannes, Eiriksson, Ogmundur, Ulfarsson, Magnus O., Palsson, Gunnar, Hardarson, Marteinn T., Oddsson, Asmundur, Jensson, Brynjar O., Kristmundsdottir, Snaedis, Sigurpalsdottir, Brynja D., Stefansson, Olafur A., Beyter, Doruk, Holley, Guillaume, Tragante, Vinicius, Gylfason, Arnaldur, Olason, Pall I., Zink, Florian, Asgeirsdottir, Margret, Sverrisson, Sverrir T., Sigurdsson, Brynjar, Gudjonsson, Sigurjon A., Sigurdsson, Gunnar T., Halldorsson, Gisli H., Sveinbjornsson, Gardar, Norland, Kristjan, Styrkarsdottir, Unnur, Magnusdottir, Droplaug N., Snorradottir, Steinunn, Kristinsson, Kari, Sobech, Emilia, Jonsson, Helgi, Geirsson, Arni J., Olafsson, Isleifur, Jonsson, Palmi, Pedersen, Ole Birger, Erikstrup, Christian, Brunak, Søren, Ostrowski, Sisse Rye, Thorleifsson, Gudmar, Jonsson, Frosti, Melsted, Pall, Jonsdottir, Ingileif, Rafnar, Thorunn, Holm, Hilma, Stefansson, Hreinn, Saemundsdottir, Jona, Gudbjartsson, Daniel F., Magnusson, Olafur T., Masson, Gisli, Thorsteinsdottir, Unnur, Helgason, Agnar, Jonsson, Hakon, Sulem, Patrick, Stefansson, Kari
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 28.07.2022; Nature Publishing Group
• Subjects: 45/23; 45/43; 45/70; 631/208/205/2138; 631/208/457/649; 631/208/514/1948; 631/208/721; 692/308/2056; Africa - ethnology; Asia - ethnology; Biobanks; Biological Specimen Banks; Cohort Studies; Conservation; Conserved Sequence; Databases, Genetic; Depletion; Exons; Exons - genetics; Gene sequencing; Genetic Variation; Genome, Human - genetics; Genomes; Genomics; Genotype & phenotype; Haplotypes; Haplotypes - genetics; Humanities and Social Sciences; Humans; INDEL Mutation; Ireland - ethnology; Microsatellite Repeats; Microsatellites; multidisciplinary; Mutation; Nucleotide sequence; Nucleotides; Phenotypic variations; Polymorphism, Single Nucleotide - genetics; Science; Science (multidisciplinary); Single-nucleotide polymorphism; United Kingdom; Whole Genome Sequencing; United Kingdom; Asia; Ireland; Africa; United Kingdom > UK

Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over the past decade, insights into this relationship have been obtained from whole-exome sequenci...