Ontology highlight
ABSTRACT:
SUBMITTER: Halldorsson BV
PROVIDER: S-EPMC9329122 | biostudies-literature | 2022 Jul
REPOSITORIES: biostudies-literature
Halldorsson Bjarni V BV Eggertsson Hannes P HP Moore Kristjan H S KHS Hauswedell Hannes H Eiriksson Ogmundur O Ulfarsson Magnus O MO Palsson Gunnar G Hardarson Marteinn T MT Oddsson Asmundur A Jensson Brynjar O BO Kristmundsdottir Snaedis S Sigurpalsdottir Brynja D BD Stefansson Olafur A OA Beyter Doruk D Holley Guillaume G Tragante Vinicius V Gylfason Arnaldur A Olason Pall I PI Zink Florian F Asgeirsdottir Margret M Sverrisson Sverrir T ST Sigurdsson Brynjar B Gudjonsson Sigurjon A SA Sigurdsson Gunnar T GT Halldorsson Gisli H GH Sveinbjornsson Gardar G Norland Kristjan K Styrkarsdottir Unnur U Magnusdottir Droplaug N DN Snorradottir Steinunn S Kristinsson Kari K Sobech Emilia E Jonsson Helgi H Geirsson Arni J AJ Olafsson Isleifur I Jonsson Palmi P Pedersen Ole Birger OB Erikstrup Christian C Brunak Søren S Ostrowski Sisse Rye SR Thorleifsson Gudmar G Jonsson Frosti F Melsted Pall P Jonsdottir Ingileif I Rafnar Thorunn T Holm Hilma H Stefansson Hreinn H Saemundsdottir Jona J Gudbjartsson Daniel F DF Magnusson Olafur T OT Masson Gisli G Thorsteinsdottir Unnur U Helgason Agnar A Jonsson Hakon H Sulem Patrick P Stefansson Kari K
Nature 20220720 7920
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 sequencing or whole-genome sequencing of large cohorts with rich phenotypic data<sup>1,2</sup>. Here we describe the analysis of whole-genome sequencing of 150,119 individuals from the UK Biobank<sup>3</sup>. ...[more]