Exome sequencing and characterization of 49,960 individuals in the UK Biobank

The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world 1 . Here we describe the release of exome-sequence data for the first 49,960 study participants, revealing approximately 4 million...

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Vydané v:	Nature (London) Ročník 586; číslo 7831; s. 749 - 756
Hlavní autori:	Van Hout, Cristopher V., Tachmazidou, Ioanna, Backman, Joshua D., Hoffman, Joshua D., Liu, Daren, Pandey, Ashutosh K., Gonzaga-Jauregui, Claudia, Khalid, Shareef, Ye, Bin, Banerjee, Nilanjana, Li, Alexander H., O’Dushlaine, Colm, Marcketta, Anthony, Staples, Jeffrey, Schurmann, Claudia, Hawes, Alicia, Maxwell, Evan, Barnard, Leland, Lopez, Alexander, Penn, John, Habegger, Lukas, Blumenfeld, Andrew L., Bai, Xiaodong, O’Keeffe, Sean, Yadav, Ashish, Praveen, Kavita, Jones, Marcus, Salerno, William J., Chung, Wendy K., Surakka, Ida, Willer, Cristen J., Hveem, Kristian, Leader, Joseph B., Carey, David J., Ledbetter, David H., Cardon, Lon, Yancopoulos, George D., Economides, Aris, Coppola, Giovanni, Shuldiner, Alan R., Balasubramanian, Suganthi, Cantor, Michael, Nelson, Matthew R., Whittaker, John, Reid, Jeffrey G., Marchini, Jonathan, Overton, John D., Scott, Robert A., Abecasis, Gonçalo R., Yerges-Armstrong, Laura, Baras, Aris
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	London Nature Publishing Group UK 29.10.2020 Nature Publishing Group
Predmet:	45/43 631/208/212 631/208/457/649/2219 631/208/514/2254 692/308/2056 Aged Analysis Asthma Biobanks Blood cells Bone density Bone Density - genetics BRCA1 protein BRCA2 protein Breast cancer Collagen Type VI - genetics Collections and collecting Cornea Databases, Genetic Datasets Demography Exome - genetics Exome Sequencing Female Gene banks Gene sequencing Genes Genes, BRCA1 Genes, BRCA2 Genomes Genotype Human genome Humanities and Social Sciences Humans Ion Channels - genetics Loss of Function Mutation - genetics Male Middle Aged multidisciplinary Neoplasms - genetics Penetrance Peptide Fragments - genetics Phenotype Phenotypes Population Population studies ras GTPase-Activating Proteins - genetics Science Science (multidisciplinary) United Kingdom Varicose Veins - genetics Whole genome sequencing X chromosomes United Kingdom United Kingdom > UK
ISSN:	0028-0836, 1476-4687, 1476-4687
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