Exome sequencing and analysis of 454,787 UK Biobank participants

A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here we used exome sequencing 1 to explore protein-altering variants and their consequences in 454,787 participants in the UK Biobank study 2 . We...

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Vydáno v:	Nature (London) Ročník 599; číslo 7886; s. 628 - 634
Hlavní autoři:	Backman, Joshua D., Li, Alexander H., Marcketta, Anthony, Sun, Dylan, Mbatchou, Joelle, Kessler, Michael D., Benner, Christian, Liu, Daren, Locke, Adam E., Balasubramanian, Suganthi, Yadav, Ashish, Banerjee, Nilanjana, Gillies, Christopher E., Damask, Amy, Liu, Simon, Bai, Xiaodong, Hawes, Alicia, Maxwell, Evan, Gurski, Lauren, Watanabe, Kyoko, Kosmicki, Jack A., Rajagopal, Veera, Mighty, Jason, Jones, Marcus, Mitnaul, Lyndon, Stahl, Eli, Coppola, Giovanni, Jorgenson, Eric, Habegger, Lukas, Salerno, William J., Shuldiner, Alan R., Lotta, Luca A., Overton, John D., Cantor, Michael N., Reid, Jeffrey G., Yancopoulos, George, Kang, Hyun M., Marchini, Jonathan, Baras, Aris, Abecasis, Gonçalo R., Ferreira, Manuel A. R.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	London Nature Publishing Group UK 25.11.2021 Nature Publishing Group
Témata:	45/23 631/208/205/2138 631/208/457/649/2219 631/208/514 692/308/2056 Africa - ethnology Asia - ethnology Asthma Asthma - genetics Biobanks Biological Specimen Banks Databases, Genetic Diabetes mellitus Diabetes Mellitus - genetics Disease Europe - ethnology Exome - genetics Exome Sequencing Eye diseases Eye Diseases - genetics Female Gene banks Gene sequencing Genes Genetic Predisposition to Disease - genetics Genetic Variation Genetics Genome-wide association studies Genome-Wide Association Study Genomes Humanities and Social Sciences Humans Hypertension Hypertension - genetics Identification and classification Liver diseases Liver Diseases - genetics Male Methods multidisciplinary Mutation Neoplasms - genetics Neural coding Neuroimaging Phenotypes Phenotypic variations Proteins Quantitative Trait, Heritable Science Science (multidisciplinary) United Kingdom United Kingdom Asia Europe Africa United States United Kingdom > UK
ISSN:	0028-0836, 1476-4687, 1476-4687
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