Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Accepted/In Press date: 22 July 2021

e-pub ahead of print date: 25 August 2021

Published date: 1 December 2021

Additional Information: Funding Information: We thank all the family members for their participation; Kate Chandler, Jill Clayton-Smith, John Dean, Verity Hartill, Diana Johnson, Gabriela Jones, Usha Kini, Melissa Lees, Martin McKibbin, Gillian Rea, Ruth Richardson, and Brian Wilson for patient recruitment and liaison; and Giada Melistaccio for help with bioinformatics analysis. This work was supported by the NIHR Oxford Biomedical Research Centre Program (A.O.M.W.), the MRC through a Project Grant MR/T031670/1 (A.O.M.W.), a Doctoral Training Program studentship (R.S.T) and the WIMM Strategic Alliance (G0902418 and MC UU 12025), the VTCT Foundation (S.R.F.T., A.O.M.W.) and a Wellcome Investigator Award 102731 (A.O.M.W.). We acknowledge support from the NIHR UK Rare Genetic Disease Research Consortium. This research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100,000 Genomes Project is funded by the NIHR and National Health Service (NHS) England. Wellcome, Cancer Research UK and the MRC have also funded research infrastructure. The Scottish Genomes Partnership is funded by the Chief Scientist Office of the Scottish Government Health Directorates [SGP/1] and The MRC Whole Genome Sequencing for Health and Wealth Initiative (MC/PC/15080). The 100,000 Genomes Project uses data provided by patients and collected by the NHS as part of their care and support. The views expressed in this publication are those of the authors and not necessarily those of Wellcome, NIHR, NIDCR, or the Department of Health and Social Care. Publisher Copyright: © 2021, The Author(s). Copyright: Copyright 2021 Elsevier B.V., All rights reserved.

Local EPrints ID: 453631

URI: http://eprints.soton.ac.uk/id/eprint/453631

DOI: doi:10.1038/s41436-021-01297-5

ISSN: 1098-3600

PURE UUID: 875cd019-6146-483c-9350-decbf0f63ec5

ORCID for Andrew G L Douglas: orcid.org/0000-0001-5154-6714

Date deposited: 20 Jan 2022 17:40

Last modified: 17 Mar 2024 03:21