• Media type: E-Article
  • Title: Whole-genome sequencing of patients with rare diseases in a national health system
  • Contributor: Turro, Ernest; Astle, William J.; Megy, Karyn; Gräf, Stefan; Greene, Daniel; Shamardina, Olga; Allen, Hana Lango; Sanchis-Juan, Alba; Frontini, Mattia; Thys, Chantal; Stephens, Jonathan; Mapeta, Rutendo; Burren, Oliver S.; Downes, Kate; Haimel, Matthias; Tuna, Salih; Deevi, Sri V. V.; Aitman, Timothy J.; Bennett, David L.; Calleja, Paul; Carss, Keren; Caulfield, Mark J.; Chinnery, Patrick F.; Dixon, Peter H.; [...]
  • imprint: Springer Science and Business Media LLC, 2020
  • Published in: Nature
  • Language: English
  • DOI: 10.1038/s41586-020-2434-2
  • ISSN: 0028-0836; 1476-4687
  • Keywords: Multidisciplinary
  • Origination:
  • Footnote: