Exome sequencing and characterization of 49,960 individuals in the UK Biobank
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
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Full title
Author / Creator
Regeneron Genetics Center , Geisinger-Regeneron DiscovEHR Collaboration , 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 and Baras, Aris
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 coding variants (of which around 98.6% have...
Alternative Titles
Full title
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
Authors, Artists and Contributors
Author / Creator
Geisinger-Regeneron DiscovEHR Collaboration
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7759458
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7759458
Other Identifiers
ISSN
0028-0836,1476-4687
E-ISSN
1476-4687
DOI
10.1038/s41586-020-2853-0
