Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project

Moore, A.R. orcid.org/0009-0007-9595-7786, Yu, J., Pei, Y. et al. (15 more authors) (2023) Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project. Journal of Medical Genetics, 60 (12). pp. 1235-1244. ISSN 0022-2593

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Item Type: Article
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© Author(s) (or their employer(s)) 2023. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

Keywords: diagnosis; genetic diseases, inborn; genetics, medical; genomics; sequence analysis, DNA
Dates:
  • Published: 27 November 2023
  • Published (online): 9 August 2023
  • Accepted: 28 July 2023
  • Submitted: 26 April 2023
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)
The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine and Population Health
Funding Information:
Funder
Grant number
MEDICAL RESEARCH COUNCIL
MR/W01761X/1
Depositing User: Symplectic Sheffield
Date Deposited: 22 Aug 2023 10:56
Last Modified: 04 Oct 2024 14:55
Status: Published
Publisher: BMJ Publishing Group
Refereed: Yes
Identification Number: 10.1136/jmg-2023-109362
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