Article
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature - 1 Oct 2020
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
Abstract excerpt
The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world1. 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 a frequency of less than 1%). The data include 198,269 autosomal predicted...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.