Authors
Daniel Taliun, Daniel N Harris, Michael D Kessler, Jedidiah Carlson, Zachary A Szpiech, Raul Torres, Sarah A Gagliano Taliun, André Corvelo, Stephanie M Gogarten, Hyun Min Kang, Achilleas N Pitsillides, Jonathon LeFaive, Seung-been Lee, Xiaowen Tian, Brian L Browning, Sayantan Das, Anne-Katrin Emde, Wayne E Clarke, Douglas P Loesch, Amol C Shetty, Thomas W Blackwell, Albert V Smith, Quenna Wong, Xiaoming Liu, Matthew P Conomos, Dean M Bobo, François Aguet, Christine Albert, Alvaro Alonso, Kristin G Ardlie, Dan E Arking, Stella Aslibekyan, Paul L Auer, John Barnard, R Graham Barr, Lucas Barwick, Lewis C Becker, Rebecca L Beer, Emelia J Benjamin, Lawrence F Bielak, John Blangero, Michael Boehnke, Donald W Bowden, Jennifer A Brody, Esteban G Burchard, Brian E Cade, James F Casella, Brandon Chalazan, Daniel I Chasman, Yii-Der Ida Chen, Michael H Cho, Seung Hoan Choi, Mina K Chung, Clary B Clish, Adolfo Correa, Joanne E Curran, Brian Custer, Dawood Darbar, Michelle Daya, Mariza de Andrade, Dawn L DeMeo, Susan K Dutcher, Patrick T Ellinor, Leslie S Emery, Celeste Eng, Diane Fatkin, Tasha Fingerlin, Lukas Forer, Myriam Fornage, Nora Franceschini, Christian Fuchsberger, Stephanie M Fullerton, Soren Germer, Mark T Gladwin, Daniel J Gottlieb, Xiuqing Guo, Michael E Hall, Jiang He, Nancy L Heard-Costa, Susan R Heckbert, Marguerite R Irvin, Jill M Johnsen, Andrew D Johnson, Robert Kaplan, Sharon LR Kardia, Tanika Kelly, Shannon Kelly, Eimear E Kenny, Douglas P Kiel, Robert Klemmer, Barbara A Konkle, Charles Kooperberg, Anna Köttgen, Leslie A Lange, Jessica Lasky-Su, Daniel Levy, Xihong Lin, Keng-Han Lin, Chunyu Liu, Ruth JF Loos, Lori Garman, Robert Gerszten, Steven A Lubitz, Kathryn L Lunetta, Angel CY Mak, Ani Manichaikul, Alisa K Manning, Rasika A Mathias, David D McManus, Stephen T McGarvey, James B Meigs, Deborah A Meyers, Julie L Mikulla, Mollie A Minear, Braxton D Mitchell, Sanghamitra Mohanty, May E Montasser, Courtney Montgomery, Alanna C Morrison, Joanne M Murabito, Andrea Natale, Pradeep Natarajan, Sarah C Nelson, Kari E North, Jeffrey R O’Connell, Nicholette D Palmer, Nathan Pankratz, Gina M Peloso, Patricia A Peyser, Jacob Pleiness, Wendy S Post, Bruce M Psaty, DC Rao, Susan Redline, Alexander P Reiner, Dan Roden, Jerome I Rotter, Ingo Ruczinski, Chloé Sarnowski, Sebastian Schoenherr, David A Schwartz, Jeong-Sun Seo, Sudha Seshadri, Vivien A Sheehan, Wayne H Sheu, M Benjamin Shoemaker, Nicholas L Smith, Jennifer A Smith, Nona Sotoodehnia, Adrienne M Stilp
Publication date
2021/2/11
Journal
Nature
Volume
590
Issue
7845
Pages
290-299
Publisher
Nature Publishing Group UK
Description
The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases. The initial phases of the programme focused on whole-genome sequencing of individuals with rich phenotypic data and diverse backgrounds. Here we describe the TOPMed goals and design as well as the available resources and early insights obtained from the sequence data. The resources include a variant browser, a genotype imputation server, and genomic and phenotypic data that are available through dbGaP (Database of Genotypes and Phenotypes). In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and insertion or deletion variants after alignment with the reference genome. Additional previously undescribed …
Scholar articles
D Taliun, DN Harris, MD Kessler, J Carlson… - Nature, 2021