Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K.E., Wiel, L. et al. (30 more authors) (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586 (7831). pp. 757-762. ISSN 0028-0836

Abstract

Metadata

Item Type: Article
Authors/Creators:
  • Kaplanis, J.
  • Samocha, K.E.
  • Wiel, L.
  • Zhang, Z.
  • Arvai, K.J.
  • Eberhardt, R.Y.
  • Gallone, G.
  • Lelieveld, S.H.
  • Martin, H.C.
  • McRae, J.F.
  • Short, P.J.
  • Torene, R.I.
  • de Boer, E.
  • Danecek, P.
  • Gardner, E.J.
  • Huang, N.
  • Lord, J.
  • Martincorena, I.
  • Pfundt, R.
  • Reijnders, M.R.F.
  • Yeung, A.
  • Yntema, H.G.
  • Deciphering Developmental Disorders Study
  • Vissers, L.E.L.M.
  • Juusola, J.
  • Wright, C.F.
  • Brunner, H.G.
  • Firth, H.V.
  • FitzPatrick, D.R.
  • Barrett, J.C.
  • Hurles, M.E.
  • Gilissen, C.
  • Retterer, K.
Copyright, Publisher and Additional Information:

© 2020 The Authors. This is an author-created version of a paper subsequently published in Nature. Available under the terms of the Creative Commons Attribution Licence (http://creativecommons.org/licenses/by/4.0/).

Dates:
  • Published: 14 October 2020
  • Published (online): 14 October 2020
  • Accepted: 17 July 2020
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 29 Oct 2020 11:34
Last Modified: 06 Nov 2020 09:06
Status: Published
Publisher: Springer Nature
Refereed: Yes
Identification Number: 10.1038/s41586-020-2832-5
Related URLs:
Open Archives Initiative ID (OAI ID):

Download

Filename: 797787v3.full.pdf

Description: Submitted accepted pre-print

Licence: CC-BY 4.0

Export

Statistics