First-line genome sequencing is here to stay, but how crucial is clinical phenotyping going to be?

Taylor, J. and Balasubramanian, M. orcid.org/0000-0003-1488-3695 (2022) First-line genome sequencing is here to stay, but how crucial is clinical phenotyping going to be? BMJ Case Reports, 15 (3). e247238. ISSN 1757-790X

Metadata

Authors/Creators:
Copyright, Publisher and Additional Information: © BMJ Publishing Group Limited 2022. No commercial re-use.
Keywords: congenital disorders; genetics; Base Sequence; High-Throughput Nucleotide Sequencing; Humans; Phenotype
Dates:
  • Accepted: 22 February 2022
  • Published (online): 7 March 2022
  • Published: March 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: 21 Apr 2022 14:21
Last Modified: 21 Apr 2022 14:21
Status: Published
Publisher: BMJ Publishing Group
Refereed: Yes
Identification Number: https://doi.org/10.1136/bcr-2021-247238
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