Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric V. Minikel, Kaitlin E. Samocha, Eric Banks, Timothy Fennell, Anne H. O'Donnell-Luria, James S. Ware, Andrew J. Hill, Beryl B. Cummings, Taru Tukiainen, Daniel P. Birnbaum, Jack A. Kosmicki, Laramie E. Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce-Hollman, Joanne Berghout, David N. CooperNicole Deflaux, Mark DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura Gauthier, Jackie Goldstein, Namrata Gupta, Daniel Howrigan, Adam Kiezun, Mitja I. Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozeo, Gina M. Peloso, Ryan Poplin, Manuel A. Rivas, Valentin Ruano-Rubio, Samuel A. Rose, Douglas M. Ruderfer, Khalid Shakir, Peter D. Stenson, Christine Stevens, Brett P. Thomas, Grace Tiao, Maria T. Tusie-Luna, Ben Weisburd, Aarno Palotie, Jaakko Tuomilehto, Mark J. Daly, Exome Aggregation Consortium

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalNature
Volume536
Issue number7616
Pages (from-to)285-+
Number of pages13
ISSN0028-0836
DOIs
Publication statusPublished - 18 Aug 2016
MoE publication typeA1 Journal article-refereed

Fields of Science

  • HUMAN-POPULATION HISTORY
  • HUMAN-DISEASE
  • SEQUENCE VARIANTS
  • MUTATION
  • GUIDELINES
  • EVOLUTION
  • DISCOVERY
  • FRAMEWORK
  • NETWORKS
  • 3111 Biomedicine

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