Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Daniel Taliun, Daniel Harris, Michael D. Kessler, Jedidiah Carlson, Zachary A. Szpiech, Raul Torres, Sarah A. Gagliano Taliun, André Corvelo, Stephanie M. Gogarten, Hyun Min Kang, Achilleas Pitsillides, Jonathon LeFaive, Seung‐been Lee, Xiaowen Tian, Brian L. Browning, , Ruth J. F. Loos
Over 400 million variants, 97% below 1% frequency, emerge from deep whole-genome sequencing of 53,831 diverse TOPMed participants; TOPMed haplotypes enable imputation down to ~0.01% frequency.
Nature · Feb 10, 2021Peer-reviewedGenomics✦ In-depth digest