Recommendations for whole genome sequencing in diagnostics for rare diseases

Souche, E., Beltran, S., Brosens, E. et al. (28 more authors) (2022) Recommendations for whole genome sequencing in diagnostics for rare diseases. European Journal of Human Genetics. ISSN 1018-4813

Abstract

Metadata

Authors/Creators:
  • Souche, E.
  • Beltran, S.
  • Brosens, E.
  • Belmont, J.W.
  • Fossum, M.
  • Riess, O.
  • Gilissen, C.
  • Ardeshirdavani, A.
  • Houge, G.
  • van Gijn, M.
  • Clayton-Smith, J.
  • Synofzik, M.
  • de Leeuw, N.
  • Deans, Z.C.
  • Dincer, Y.
  • Eck, S.H.
  • van der Crabben, S.
  • Balasubramanian, M. ORCID logo https://orcid.org/0000-0003-1488-3695
  • Graessner, H.
  • Sturm, M.
  • Firth, H.
  • Ferlini, A.
  • Nabbout, R.
  • De Baere, E.
  • Liehr, T.
  • Macek, M.
  • Matthijs, G.
  • Scheffer, H.
  • Bauer, P.
  • Yntema, H.G.
  • Weiss, M.M.
Copyright, Publisher and Additional Information: © The Author(s) 2022. Open Access: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
Dates:
  • Accepted: 21 April 2022
  • Published (online): 16 May 2022
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Human Metabolism (Sheffield)
The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Oncology (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 31 May 2022 11:02
Last Modified: 31 May 2022 11:02
Status: Published online
Publisher: Springer Nature
Refereed: Yes
Identification Number: https://doi.org/10.1038/s41431-022-01113-x
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